Linked Data
dbSNP Id:
rs12318506
gnomAD v2:
12-75718423-G-T
gnomAD v3:
12-75324643-G-T
gnomAD v4:
12-75324643-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.75324643G>T , CM000674.2:g.75324643G>T | GRCh38 |
| NC_000012.11:g.75718423G>T , CM000674.1:g.75718423G>T | GRCh37 |
| NC_000012.10:g.74004690G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699294.1:c.131+596C>A MANE Select | ENSP00000514274.1:n.131+596C>A | |
| ENST00000393284.8:c.131+596C>A | ENSP00000376963.4:n.131+596C>A | |
| ENST00000409445.8:c.131+596C>A | ENSP00000386959.4:n.131+596C>A | |
| ENST00000409799.6:c.131+596C>A | ENSP00000386977.2:n.131+596C>A | |
| ENST00000436898.6:c.131+596C>A | ENSP00000411797.2:n.131+596C>A | |
| ENST00000328705.7:c.*421+596C>A | ENSP00000331007.3:n.*421+596C>A | |
| ENST00000336815.10:c.34-3067C>A | ENSP00000338474.6:n.34-3067C>A | |
| ENST00000393284.7:c.-509+596C>A | ENSP00000376963.3:n.-509+596C>A | |
| ENST00000409445.7:c.188+596C>A | ENSP00000386959.3:n.188+596C>A | |
| ENST00000409799.5:c.152+596C>A | ENSP00000386977.1:n.152+596C>A | |
| ENST00000436898.5:c.30+596C>A | ENSP00000411797.1:n.30+596C>A | |
| ENST00000486196.1:n.476-3067C>A | ||
| ENST00000493070.1:n.350+596C>A | ||
| ENST00000551829.5:c.-394-1421C>A | ENSP00000447737.1:n.-394-1421C>A | |
| ENST00000552497.5:c.34-3067C>A | ENSP00000449797.1:n.34-3067C>A | |
| NM_001286547.1:c.152+596C>A | NP_001273476.1:n.152+596C>A | |
| NM_001286548.1:c.-423+596C>A | NP_001273477.1:n.-423+596C>A | |
| NM_001286549.1:c.-645-3067C>A | NP_001273478.1:n.-645-3067C>A | |
| NM_032606.3:c.188+596C>A | NP_115995.2:n.188+596C>A | |
| XM_005269192.1:c.30+596C>A | XP_005269249.1:n.30+596C>A | |
| XM_006719648.2:c.188+596C>A | XP_006719711.2:n.188+596C>A | |
| XM_006719649.2:c.188+596C>A | XP_006719712.2:n.188+596C>A | |
| XM_011538876.1:c.152+596C>A | XP_011537178.1:n.152+596C>A | |
| XM_011538877.1:c.152+596C>A | XP_011537179.1:n.152+596C>A | |
| XM_011538878.1:c.152+596C>A | XP_011537180.1:n.152+596C>A | |
| XM_011538879.1:c.152+596C>A | XP_011537181.1:n.152+596C>A | |
| XM_011538880.1:c.152+596C>A | XP_011537182.1:n.152+596C>A | |
| XM_011538881.1:c.152+596C>A | XP_011537183.1:n.152+596C>A | |
| XM_011538882.1:c.152+596C>A | XP_011537184.1:n.152+596C>A | |
| XM_011538883.1:c.152+596C>A | XP_011537185.1:n.152+596C>A | |
| XM_011538884.1:c.152+596C>A | XP_011537186.1:n.152+596C>A | |
| XM_011538885.1:c.188+596C>A | XP_011537187.1:n.188+596C>A | |
| XM_011538886.1:c.188+596C>A | XP_011537188.1:n.188+596C>A | |
| XM_011538887.1:c.188+596C>A | XP_011537189.1:n.188+596C>A | |
| XM_011538888.1:c.34-3067C>A | XP_011537190.1:n.34-3067C>A | |
| XM_011538889.1:c.152+596C>A | XP_011537191.1:n.152+596C>A | |
| XM_011538890.1:c.188+596C>A | XP_011537192.1:n.188+596C>A | |
| XM_011538891.1:c.152+596C>A | XP_011537193.1:n.152+596C>A | |
| XM_011538892.1:c.-394-1421C>A | XP_011537194.1:n.-394-1421C>A | |
| XM_011538893.1:c.188+596C>A | XP_011537195.1:n.188+596C>A | |
| XR_944789.1:n.385+596C>A | ||
| NM_001286547.2:c.152+596C>A | NP_001273476.1:n.152+596C>A | |
| NM_001286548.2:c.-423+596C>A | NP_001273477.1:n.-423+596C>A | |
| NM_001355023.1:c.152+596C>A | NP_001341952.1:n.152+596C>A | |
| NM_001355024.1:c.152+596C>A | NP_001341953.1:n.152+596C>A | |
| NM_001355025.1:c.30+596C>A | NP_001341954.1:n.30+596C>A | |
| NM_001355026.1:c.34-3067C>A | NP_001341955.1:n.34-3067C>A | |
| NM_001355027.1:c.30+596C>A | NP_001341956.1:n.30+596C>A | |
| NM_001355030.1:c.-376-3067C>A | NP_001341959.1:n.-376-3067C>A | |
| NM_001355031.1:c.-394-1421C>A | NP_001341960.1:n.-394-1421C>A | |
| NM_001355032.1:c.-536-1421C>A | NP_001341961.1:n.-536-1421C>A | |
| NM_001355033.1:c.-348-3067C>A | NP_001341962.1:n.-348-3067C>A | |
| NM_032606.4:c.188+596C>A | NP_115995.2:n.188+596C>A | |
| NR_149155.1:n.101-3067C>A | ||
| NR_149156.1:n.101-3067C>A | ||
| NR_149157.1:n.505-3067C>A | ||
| NR_149158.1:n.101-3067C>A | ||
| NR_149159.1:n.505-3067C>A | ||
| NR_149160.1:n.565-3067C>A | ||
| NR_149161.1:n.101-1421C>A | ||
| XM_011538886.2:c.188+596C>A | XP_011537188.1:n.188+596C>A | |
| XM_011538887.2:c.188+596C>A | XP_011537189.1:n.188+596C>A | |
| XM_011538889.3:c.152+596C>A | XP_011537191.1:n.152+596C>A | |
| XM_017020036.1:c.-634+596C>A | XP_016875525.1:n.-634+596C>A | |
| XM_024449226.1:c.30+596C>A | XP_024304994.1:n.30+596C>A | |
| NM_001286547.3:c.152+596C>A | NP_001273476.1:n.152+596C>A | |
| NM_001286548.3:c.-423+596C>A | NP_001273477.1:n.-423+596C>A | |
| NM_001355023.2:c.152+596C>A | NP_001341952.1:n.152+596C>A | |
| NM_001355024.2:c.152+596C>A | NP_001341953.1:n.152+596C>A | |
| NM_001355025.2:c.30+596C>A | NP_001341954.1:n.30+596C>A | |
| NM_001355026.2:c.34-3067C>A | NP_001341955.1:n.34-3067C>A | |
| NM_001355027.2:c.30+596C>A | NP_001341956.1:n.30+596C>A | |
| NM_001355030.2:c.-376-3067C>A | NP_001341959.1:n.-376-3067C>A | |
| NM_001355031.2:c.-394-1421C>A | NP_001341960.1:n.-394-1421C>A | |
| NM_001355032.2:c.-536-1421C>A | NP_001341961.1:n.-536-1421C>A | |
| NM_001355033.2:c.-348-3067C>A | NP_001341962.1:n.-348-3067C>A | |
| NM_032606.5:c.188+596C>A | NP_115995.2:n.188+596C>A | |
| NR_149155.2:n.65-3067C>A | ||
| NR_149156.2:n.65-3067C>A | ||
| NR_149157.2:n.469-3067C>A | ||
| NR_149158.2:n.65-3067C>A | ||
| NR_149159.2:n.469-3067C>A | ||
| NR_149160.2:n.529-3067C>A | ||
| NR_149161.2:n.65-1421C>A | ||
| NM_001355023.4:c.131+596C>A | NP_001341952.2:n.131+596C>A | |
| NM_001355024.4:c.131+596C>A MANE Select | NP_001341953.2:n.131+596C>A |