Linked Data
dbSNP Id:
rs116975820
gnomAD v2:
12-42722908-T-G
gnomAD v3:
12-42329106-T-G
gnomAD v4:
12-42329106-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.42329106T>G , CM000674.2:g.42329106T>G | GRCh38 |
| NC_000012.11:g.42722908T>G , CM000674.1:g.42722908T>G | GRCh37 |
| NC_000012.10:g.41009175T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358314.12:c.-21+2877T>G MANE Select | ENSP00000351066.7:n.-21+2877T>G | |
| ENST00000256678.12:c.-118-717T>G | ENSP00000256678.8:n.-118-717T>G | |
| ENST00000317560.13:c.-43+2877T>G | ENSP00000322048.9:n.-43+2877T>G | |
| ENST00000337898.10:c.-21+2877T>G | ENSP00000338510.6:n.-21+2877T>G | |
| ENST00000358314.11:c.-21+2877T>G | ENSP00000351066.7:n.-21+2877T>G | |
| ENST00000395568.6:c.-21+2877T>G | ENSP00000378935.2:n.-21+2877T>G | |
| ENST00000395580.7:c.-43+2877T>G | ENSP00000378947.3:n.-43+2877T>G | |
| ENST00000432191.6:c.-21+2877T>G | ENSP00000393965.2:n.-21+2877T>G | |
| ENST00000449194.6:c.-21+2877T>G | ENSP00000390681.2:n.-21+2877T>G | |
| ENST00000549190.5:c.35-6777T>G | ENSP00000447168.1:n.35-6777T>G | |
| ENST00000549774.5:n.72+2877T>G | ||
| ENST00000550535.5:n.49+2877T>G | ||
| ENST00000551406.5:n.58+2877T>G | ||
| ENST00000551723.5:c.-43+2877T>G | ENSP00000450346.1:n.-43+2877T>G | |
| ENST00000552202.5:n.52+2877T>G | ||
| ENST00000552429.5:c.-21+2877T>G | ENSP00000448645.1:n.-21+2877T>G | |
| ENST00000552761.5:c.-43+2877T>G | ENSP00000449331.1:n.-43+2877T>G | |
| ENST00000610488.4:c.-64+2877T>G | ENSP00000479913.1:n.-64+2877T>G | |
| ENST00000613154.4:c.-64+2877T>G | ENSP00000478872.1:n.-64+2877T>G | |
| ENST00000619544.4:c.-64+2877T>G | ENSP00000477681.1:n.-64+2877T>G | |
| NM_001143787.1:c.-21+2877T>G | NP_001137259.1:n.-21+2877T>G | |
| NM_001143788.1:c.-21+2877T>G | NP_001137260.1:n.-21+2877T>G | |
| NM_001143789.1:c.-21+2877T>G | NP_001137261.1:n.-21+2877T>G | |
| NM_016488.6:c.-21+2877T>G | NP_057572.5:n.-21+2877T>G | |
| NM_201438.1:c.-43+2877T>G | NP_958846.1:n.-43+2877T>G | |
| NM_201439.1:c.-21+2877T>G | NP_958847.1:n.-21+2877T>G | |
| NM_201440.1:c.-43+2877T>G | NP_958848.1:n.-43+2877T>G | |
| NM_201515.1:c.-43+2877T>G | NP_958923.1:n.-43+2877T>G | |
| XM_005268962.2:c.-21+2877T>G | XP_005269019.1:n.-21+2877T>G | |
| XM_005268965.2:c.-21+2877T>G | XP_005269022.1:n.-21+2877T>G | |
| XM_011538459.1:c.-43+2877T>G | XP_011536761.1:n.-43+2877T>G | |
| XM_011538461.1:c.-21+2877T>G | XP_011536763.1:n.-21+2877T>G | |
| XM_011538464.1:c.-43+2877T>G | XP_011536766.1:n.-43+2877T>G | |
| XM_011538465.1:c.-21+2877T>G | XP_011536767.1:n.-21+2877T>G | |
| XM_011538467.1:c.-43+2877T>G | XP_011536769.1:n.-43+2877T>G | |
| XM_011538470.1:c.-43+2877T>G | XP_011536772.1:n.-43+2877T>G | |
| XM_011538471.1:c.-21+2877T>G | XP_011536773.1:n.-21+2877T>G | |
| NM_001364822.1:c.-43+2877T>G | NP_001351751.1:n.-43+2877T>G | |
| NM_001364823.1:c.-43+2877T>G | NP_001351752.1:n.-43+2877T>G | |
| NM_001364824.1:c.-21+2877T>G | NP_001351753.1:n.-21+2877T>G | |
| NM_001364825.1:c.-21+2877T>G | NP_001351754.1:n.-21+2877T>G | |
| NM_001364826.1:c.-118-717T>G | NP_001351755.1:n.-118-717T>G | |
| NM_001364827.1:c.-21+2877T>G | NP_001351756.1:n.-21+2877T>G | |
| NM_001364828.1:c.-21+2877T>G | NP_001351757.1:n.-21+2877T>G | |
| NM_001364829.1:c.-21+2877T>G | NP_001351758.1:n.-21+2877T>G | |
| NM_001364830.1:c.-21+2877T>G | NP_001351759.1:n.-21+2877T>G | |
| NM_001364831.1:c.-43+2877T>G | NP_001351760.1:n.-43+2877T>G | |
| NM_001364832.1:c.-43+2877T>G | NP_001351761.1:n.-43+2877T>G | |
| NM_001364833.1:c.-21+2877T>G | NP_001351762.1:n.-21+2877T>G | |
| XM_011538459.2:c.-43+2877T>G | XP_011536761.1:n.-43+2877T>G | |
| XM_017019434.1:c.-43+2877T>G | XP_016874923.1:n.-43+2877T>G | |
| XM_017019436.1:c.-43+2877T>G | XP_016874925.1:n.-43+2877T>G | |
| XM_017019437.2:c.-21+2877T>G | XP_016874926.1:n.-21+2877T>G | |
| XM_017019438.2:c.-21+2877T>G | XP_016874927.1:n.-21+2877T>G | |
| XM_017019439.1:c.-43+2877T>G | XP_016874928.1:n.-43+2877T>G | |
| XM_017019440.1:c.-43+2877T>G | XP_016874929.1:n.-43+2877T>G | |
| XM_017019441.2:c.-21+2877T>G | XP_016874930.1:n.-21+2877T>G | |
| XM_017019442.2:c.-21+2877T>G | XP_016874931.1:n.-21+2877T>G | |
| XM_017019443.1:c.-43+2877T>G | XP_016874932.1:n.-43+2877T>G | |
| XM_017019444.2:c.-43+2877T>G | XP_016874933.1:n.-43+2877T>G | |
| XM_017019445.2:c.-21+2877T>G | XP_016874934.1:n.-21+2877T>G | |
| XM_017019446.2:c.-21+2877T>G | XP_016874935.1:n.-21+2877T>G | |
| XM_017019447.1:c.-43+2877T>G | XP_016874936.1:n.-43+2877T>G | |
| XM_017019448.1:c.-43+2877T>G | XP_016874937.1:n.-43+2877T>G | |
| XM_017019449.1:c.-21+2877T>G | XP_016874938.1:n.-21+2877T>G | |
| XM_017019450.1:c.-21+2877T>G | XP_016874939.1:n.-21+2877T>G | |
| XM_017019451.1:c.-43+2877T>G | XP_016874940.1:n.-43+2877T>G | |
| XR_001748750.1:n.63+2877T>G | ||
| XR_001748751.2:n.73+2877T>G | ||
| XR_001748752.2:n.73+2877T>G | ||
| XR_001748753.1:n.67+2877T>G | ||
| XR_001748754.2:n.56+2877T>G | ||
| XR_001748755.1:n.101+2877T>G | ||
| NM_001143787.2:c.-21+2877T>G | NP_001137259.1:n.-21+2877T>G | |
| NM_001364823.2:c.-43+2877T>G | NP_001351752.1:n.-43+2877T>G | |
| NM_001364825.2:c.-21+2877T>G | NP_001351754.1:n.-21+2877T>G | |
| NM_001364826.2:c.-118-717T>G | NP_001351755.1:n.-118-717T>G | |
| NM_001364827.2:c.-21+2877T>G | NP_001351756.1:n.-21+2877T>G | |
| NM_001364828.2:c.-21+2877T>G | NP_001351757.1:n.-21+2877T>G | |
| NM_001364829.2:c.-21+2877T>G | NP_001351758.1:n.-21+2877T>G | |
| NM_001364830.2:c.-21+2877T>G | NP_001351759.1:n.-21+2877T>G | |
| NM_001364831.2:c.-43+2877T>G | NP_001351760.1:n.-43+2877T>G | |
| NM_001364833.2:c.-21+2877T>G | NP_001351762.1:n.-21+2877T>G | |
| NM_016488.7:c.-21+2877T>G | NP_057572.5:n.-21+2877T>G | |
| NM_201438.2:c.-43+2877T>G | NP_958846.1:n.-43+2877T>G | |
| NM_201439.2:c.-21+2877T>G MANE Select | NP_958847.1:n.-21+2877T>G | |
| NM_001143788.2:c.-21+2877T>G | NP_001137260.1:n.-21+2877T>G | |
| NM_001143789.2:c.-21+2877T>G | NP_001137261.1:n.-21+2877T>G | |
| NM_001364822.2:c.-43+2877T>G | NP_001351751.1:n.-43+2877T>G | |
| NM_001364824.2:c.-21+2877T>G | NP_001351753.1:n.-21+2877T>G | |
| NM_001364832.2:c.-43+2877T>G | NP_001351761.1:n.-43+2877T>G | |
| NM_201440.2:c.-43+2877T>G | NP_958848.1:n.-43+2877T>G | |
| NM_201515.2:c.-43+2877T>G | NP_958923.1:n.-43+2877T>G |