Linked Data
dbSNP Id:
rs221497
gnomAD v2:
14-80088480-G-A
gnomAD v3:
14-79622137-G-A
gnomAD v4:
14-79622137-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.79622137G>A , CM000676.2:g.79622137G>A | GRCh38 |
| NC_000014.8:g.80088480G>A , CM000676.1:g.80088480G>A | GRCh37 |
| NC_000014.7:g.79158233G>A | NCBI36 |
| NG_052991.1:g.1456765G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335750.7:c.3445-41641G>A MANE Select | ENSP00000338349.7:n.3445-41641G>A | |
| ENST00000634499.2:c.3457-41641G>A | ENSP00000488920.2:n.3457-41641G>A | |
| ENST00000635466.2:c.2715-41641G>A | ||
| ENST00000676811.1:c.430-41641G>A | ENSP00000504450.1:n.430-41641G>A | |
| ENST00000679122.1:c.430-41641G>A | ENSP00000502844.1:n.430-41641G>A | |
| ENST00000281127.11:c.430-41641G>A | ENSP00000281127.7:n.430-41641G>A | |
| ENST00000428277.6:c.430-41641G>A | ENSP00000394426.2:n.430-41641G>A | |
| ENST00000554719.5:c.2326-41641G>A | ENSP00000451648.1:n.2326-41641G>A | |
| ENST00000554738.5:c.3412-41641G>A | ENSP00000450683.1:n.3412-41641G>A | |
| ENST00000555073.5:n.396-41641G>A | ||
| ENST00000555387.1:c.430-41641G>A | ENSP00000451393.1:n.430-41641G>A | |
| ENST00000556003.1:n.282-41641G>A | ||
| ENST00000557594.5:c.430-41641G>A | ENSP00000451672.1:n.430-41641G>A | |
| ENST00000634499.1:c.3412-41641G>A | ENSP00000488920.1:n.3412-41641G>A | |
| ENST00000635466.1:c.3445-41641G>A | ENSP00000489551.1:n.3445-41641G>A | |
| NM_001105250.2:c.430-41641G>A | NP_001098720.1:n.430-41641G>A | |
| NM_001272020.1:c.430-41641G>A | NP_001258949.1:n.430-41641G>A | |
| NM_004796.5:c.2326-41641G>A | NP_004787.2:n.2326-41641G>A | |
| NM_138970.4:c.430-41641G>A | NP_620426.2:n.430-41641G>A | |
| NR_073546.1:n.1383-41641G>A | ||
| NR_073547.1:n.4417-41641G>A | ||
| XM_005268218.2:c.3481-41641G>A | XP_005268275.1:n.3481-41641G>A | |
| XM_006720322.2:c.3469-41641G>A | XP_006720385.1:n.3469-41641G>A | |
| XM_006720323.2:c.3445-41641G>A | XP_006720386.1:n.3445-41641G>A | |
| XM_011537363.1:c.3481-41641G>A | XP_011535665.1:n.3481-41641G>A | |
| XM_011537364.1:c.3481-41641G>A | XP_011535666.1:n.3481-41641G>A | |
| XM_011537365.1:c.3481-41641G>A | XP_011535667.1:n.3481-41641G>A | |
| XM_011537366.1:c.3457-41641G>A | XP_011535668.1:n.3457-41641G>A | |
| XM_011537367.1:c.3481-41641G>A | XP_011535669.1:n.3481-41641G>A | |
| XM_011537368.1:c.3481-41641G>A | XP_011535670.1:n.3481-41641G>A | |
| XM_011537369.1:c.3481-41641G>A | XP_011535671.1:n.3481-41641G>A | |
| XM_011537370.1:c.3457-41641G>A | XP_011535672.1:n.3457-41641G>A | |
| XM_011537371.1:c.3481-41641G>A | XP_011535673.1:n.3481-41641G>A | |
| XM_011537372.1:c.3481-41641G>A | XP_011535674.1:n.3481-41641G>A | |
| XM_011537373.1:c.3481-41641G>A | XP_011535675.1:n.3481-41641G>A | |
| XM_011537374.1:c.3481-41641G>A | XP_011535676.1:n.3481-41641G>A | |
| XM_011537375.1:c.3481-41641G>A | XP_011535677.1:n.3481-41641G>A | |
| XM_011537376.1:c.3481-41641G>A | XP_011535678.1:n.3481-41641G>A | |
| XM_011537377.1:c.2389-41641G>A | XP_011535679.1:n.2389-41641G>A | |
| XR_943561.1:n.4486-41641G>A | ||
| XR_943562.1:n.4486-41641G>A | ||
| XR_943563.1:n.4486-41641G>A | ||
| XR_944055.1:n.206+10141C>T | ||
| XR_944056.1:n.206+10141C>T | ||
| XR_944057.1:n.206+10141C>T | ||
| XR_944058.1:n.206+10141C>T | ||
| NM_001330195.1:c.3445-41641G>A | NP_001317124.1:n.3445-41641G>A | |
| NM_001366425.1:c.3445-41641G>A | NP_001353354.1:n.3445-41641G>A | |
| NM_001366426.1:c.3457-41641G>A | NP_001353355.1:n.3457-41641G>A | |
| NR_158973.1:n.4462-41641G>A | ||
| NR_158974.1:n.4450-41641G>A | ||
| NR_158975.1:n.4462-41641G>A | ||
| XM_005268218.3:c.3481-41641G>A | XP_005268275.1:n.3481-41641G>A | |
| XM_011537364.2:c.3481-41641G>A | XP_011535666.1:n.3481-41641G>A | |
| XM_011537365.2:c.3481-41641G>A | XP_011535667.1:n.3481-41641G>A | |
| XM_017021790.1:c.3481-41641G>A | XP_016877279.1:n.3481-41641G>A | |
| XM_017021791.1:c.3481-41641G>A | XP_016877280.1:n.3481-41641G>A | |
| XM_017021792.1:c.3469-41641G>A | XP_016877281.1:n.3469-41641G>A | |
| XM_017021793.1:c.3454-41641G>A | XP_016877282.1:n.3454-41641G>A | |
| XM_017021794.1:c.3445-41641G>A | XP_016877283.1:n.3445-41641G>A | |
| XM_017021796.2:c.3430-41641G>A | XP_016877285.1:n.3430-41641G>A | |
| XM_017021797.1:c.3421-41641G>A | XP_016877286.1:n.3421-41641G>A | |
| XM_017021798.1:c.3418-41641G>A | XP_016877287.1:n.3418-41641G>A | |
| XM_017021799.2:c.3481-41641G>A | XP_016877288.1:n.3481-41641G>A | |
| XM_017021800.1:c.3481-41641G>A | XP_016877289.1:n.3481-41641G>A | |
| XM_017021801.1:c.3454-41641G>A | XP_016877290.1:n.3454-41641G>A | |
| XM_017021804.1:c.3454-41641G>A | XP_016877293.1:n.3454-41641G>A | |
| XM_017021805.1:c.3445-41641G>A | XP_016877294.1:n.3445-41641G>A | |
| XM_017021807.1:c.3481-41641G>A | XP_016877296.1:n.3481-41641G>A | |
| XM_024449750.1:c.3454-41641G>A | XP_024305518.1:n.3454-41641G>A | |
| XM_024449751.1:c.3418-41641G>A | XP_024305519.1:n.3418-41641G>A | |
| XM_024449752.1:c.3469-41641G>A | XP_024305520.1:n.3469-41641G>A | |
| XM_024449753.1:c.3418-41641G>A | XP_024305521.1:n.3418-41641G>A | |
| XR_001750599.1:n.4486-41641G>A | ||
| XR_001750600.1:n.4486-41641G>A | ||
| XR_001750602.1:n.4459-41641G>A | ||
| XR_001750604.1:n.4435-41641G>A | ||
| XR_001750605.1:n.4435-41641G>A | ||
| XR_001750606.1:n.4486-41641G>A | ||
| XR_001750607.1:n.4486-41641G>A | ||
| XR_001750609.1:n.4486-41641G>A | ||
| XR_001750610.1:n.4486-41641G>A | ||
| XR_001751001.2:n.2897+10141C>T | ||
| XR_001751002.1:n.2064+10141C>T | ||
| XR_001751003.2:n.2897+10141C>T | ||
| XR_002957572.1:n.4486-41641G>A | ||
| XR_943563.2:n.4486-41641G>A | ||
| NM_001105250.3:c.430-41641G>A | NP_001098720.1:n.430-41641G>A | |
| NM_001272020.2:c.430-41641G>A | NP_001258949.1:n.430-41641G>A | |
| NM_001330195.2:c.3445-41641G>A MANE Select | NP_001317124.1:n.3445-41641G>A | |
| NM_004796.6:c.2326-41641G>A | NP_004787.2:n.2326-41641G>A | |
| NM_138970.5:c.430-41641G>A | NP_620426.2:n.430-41641G>A | |
| NR_073546.2:n.1342-41641G>A | ||
| NR_073547.2:n.4417-41641G>A |