Linked Data
dbSNP Id:
rs2241879
ExAC:
2:234183468 G / A
gnomAD v2:
2-234183468-G-A
gnomAD v3:
2-233274822-G-A
gnomAD v4:
2-233274822-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233274822G>A , CM000664.2:g.233274822G>A | GRCh38 |
| NC_000002.11:g.234183468G>A , CM000664.1:g.234183468G>A | GRCh37 |
| NC_000002.10:g.233848207G>A | NCBI36 |
| NG_023038.1:g.28252G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392017.9:c.954+44G>A MANE Select | ENSP00000375872.4:n.954+44G>A | |
| ENST00000347464.9:c.465+44G>A | ENSP00000318259.6:n.465+44G>A | |
| ENST00000373525.9:c.522+44G>A | ENSP00000362625.5:n.522+44G>A | |
| ENST00000392017.8:c.954+44G>A | ENSP00000375872.4:n.954+44G>A | |
| ENST00000392018.1:c.1005+44G>A | ENSP00000375873.1:n.1005+44G>A | |
| ENST00000392020.8:c.897+44G>A | ENSP00000375875.4:n.897+44G>A | |
| ENST00000392021.7:c.*835+44G>A | ENSP00000375876.3:n.*835+44G>A | |
| ENST00000419681.5:c.465+44G>A | ENSP00000398773.1:n.465+44G>A | |
| ENST00000474148.5:n.1749+44G>A | ||
| ENST00000479942.5:n.1100+44G>A | ||
| ENST00000492298.5:n.475+44G>A | ||
| ENST00000498620.5:n.461+44G>A | ||
| NM_001190266.1:c.702+44G>A | NP_001177195.1:n.702+44G>A | |
| NM_001190267.1:c.606+44G>A | NP_001177196.1:n.606+44G>A | |
| NM_017974.3:c.897+44G>A | NP_060444.3:n.897+44G>A | |
| NM_030803.6:c.954+44G>A | NP_110430.5:n.954+44G>A | |
| NM_198890.2:c.465+44G>A | NP_942593.2:n.465+44G>A | |
| XM_005246082.1:c.1005+44G>A | XP_005246139.1:n.1005+44G>A | |
| XM_005246084.1:c.573+44G>A | XP_005246141.1:n.573+44G>A | |
| XM_005246086.1:c.522+44G>A | XP_005246143.1:n.522+44G>A | |
| XM_006712608.1:c.753+44G>A | XP_006712671.1:n.753+44G>A | |
| XR_241242.1:n.1199+44G>A | ||
| NM_001363742.1:c.1005+44G>A | NP_001350671.1:n.1005+44G>A | |
| XM_005246084.2:c.573+44G>A | XP_005246141.1:n.573+44G>A | |
| XM_005246086.2:c.522+44G>A | XP_005246143.1:n.522+44G>A | |
| XM_006712608.3:c.753+44G>A | XP_006712671.1:n.753+44G>A | |
| XR_001738801.2:n.1135+44G>A | ||
| XR_241242.3:n.1186+44G>A | ||
| NM_030803.7:c.954+44G>A MANE Select | NP_110430.5:n.954+44G>A | |
| NM_001190266.2:c.702+44G>A | NP_001177195.1:n.702+44G>A | |
| NM_001190267.2:c.606+44G>A | NP_001177196.1:n.606+44G>A | |
| NM_001363742.2:c.1005+44G>A | NP_001350671.1:n.1005+44G>A | |
| NM_017974.4:c.897+44G>A | NP_060444.3:n.897+44G>A | |
| NM_198890.3:c.465+44G>A | NP_942593.2:n.465+44G>A |