gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233281403T>G , CM000664.2:g.233281403T>G | GRCh38 |
| NC_000002.11:g.234190049T>G , CM000664.1:g.234190049T>G | GRCh37 |
| NC_000002.10:g.233854788T>G | NCBI36 |
| NG_023038.1:g.34833T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392017.9:c.1131+228T>G MANE Select | ENSP00000375872.4:n.1131+228T>G | |
| ENST00000347464.9:c.642+228T>G | ENSP00000318259.6:n.642+228T>G | |
| ENST00000373525.9:c.594+228T>G | ENSP00000362625.5:n.594+228T>G | |
| ENST00000392017.8:c.1131+228T>G | ENSP00000375872.4:n.1131+228T>G | |
| ENST00000392018.1:c.1182+228T>G | ENSP00000375873.1:n.1182+228T>G | |
| ENST00000392020.8:c.1074+228T>G | ENSP00000375875.4:n.1074+228T>G | |
| ENST00000392021.7:c.*1012+228T>G | ENSP00000375876.3:n.*1012+228T>G | |
| ENST00000464645.5:n.266+228T>G | ||
| ENST00000472242.1:n.597+228T>G | ||
| ENST00000474148.5:n.1926+228T>G | ||
| ENST00000479942.5:n.1277+228T>G | ||
| ENST00000498620.5:n.638+228T>G | ||
| NM_001190266.1:c.879+228T>G | NP_001177195.1:n.879+228T>G | |
| NM_001190267.1:c.783+228T>G | NP_001177196.1:n.783+228T>G | |
| NM_017974.3:c.1074+228T>G | NP_060444.3:n.1074+228T>G | |
| NM_030803.6:c.1131+228T>G | NP_110430.5:n.1131+228T>G | |
| NM_198890.2:c.642+228T>G | NP_942593.2:n.642+228T>G | |
| XM_005246082.1:c.1182+228T>G | XP_005246139.1:n.1182+228T>G | |
| XM_005246084.1:c.750+228T>G | XP_005246141.1:n.750+228T>G | |
| XM_005246086.1:c.699+228T>G | XP_005246143.1:n.699+228T>G | |
| XM_006712608.1:c.930+228T>G | XP_006712671.1:n.930+228T>G | |
| XR_241242.1:n.1376+228T>G | ||
| NM_001363742.1:c.1182+228T>G | NP_001350671.1:n.1182+228T>G | |
| XM_005246084.2:c.750+228T>G | XP_005246141.1:n.750+228T>G | |
| XM_005246086.2:c.699+228T>G | XP_005246143.1:n.699+228T>G | |
| XM_006712608.3:c.930+228T>G | XP_006712671.1:n.930+228T>G | |
| XR_001738801.2:n.1312+228T>G | ||
| XR_241242.3:n.1363+228T>G | ||
| NM_030803.7:c.1131+228T>G MANE Select | NP_110430.5:n.1131+228T>G | |
| NM_001190266.2:c.879+228T>G | NP_001177195.1:n.879+228T>G | |
| NM_001190267.2:c.783+228T>G | NP_001177196.1:n.783+228T>G | |
| NM_001363742.2:c.1182+228T>G | NP_001350671.1:n.1182+228T>G | |
| NM_017974.4:c.1074+228T>G | NP_060444.3:n.1074+228T>G | |
| NM_198890.3:c.642+228T>G | NP_942593.2:n.642+228T>G |