Linked Data
dbSNP Id:
rs762855374
ExAC:
2:234183293 C / G
gnomAD v2:
2-234183293-C-G
gnomAD v4:
2-233274647-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233274647C>G , CM000664.2:g.233274647C>G | GRCh38 |
| NC_000002.11:g.234183293C>G , CM000664.1:g.234183293C>G | GRCh37 |
| NC_000002.10:g.233848032C>G | NCBI36 |
| NG_023038.1:g.28077C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392017.9:c.852-29C>G MANE Select | ENSP00000375872.4:n.852-29C>G | |
| ENST00000347464.9:c.363-29C>G | ENSP00000318259.6:n.363-29C>G | |
| ENST00000373525.9:c.420-29C>G | ENSP00000362625.5:n.420-29C>G | |
| ENST00000392017.8:c.852-29C>G | ENSP00000375872.4:n.852-29C>G | |
| ENST00000392018.1:c.903-29C>G | ENSP00000375873.1:n.903-29C>G | |
| ENST00000392020.8:c.795-29C>G | ENSP00000375875.4:n.795-29C>G | |
| ENST00000392021.7:c.*733-29C>G | ENSP00000375876.3:n.*733-29C>G | |
| ENST00000419681.5:c.363-29C>G | ENSP00000398773.1:n.363-29C>G | |
| ENST00000444735.5:c.471-29C>G | ENSP00000409215.1:n.471-29C>G | |
| ENST00000474148.5:n.1647-29C>G | ||
| ENST00000479942.5:n.998-29C>G | ||
| ENST00000492298.5:n.344C>G | ||
| ENST00000498620.5:n.359-29C>G | ||
| NM_001190266.1:c.600-29C>G | NP_001177195.1:n.600-29C>G | |
| NM_001190267.1:c.504-29C>G | NP_001177196.1:n.504-29C>G | |
| NM_017974.3:c.795-29C>G | NP_060444.3:n.795-29C>G | |
| NM_030803.6:c.852-29C>G | NP_110430.5:n.852-29C>G | |
| NM_198890.2:c.363-29C>G | NP_942593.2:n.363-29C>G | |
| XM_005246082.1:c.903-29C>G | XP_005246139.1:n.903-29C>G | |
| XM_005246084.1:c.471-29C>G | XP_005246141.1:n.471-29C>G | |
| XM_005246086.1:c.420-29C>G | XP_005246143.1:n.420-29C>G | |
| XM_006712608.1:c.651-29C>G | XP_006712671.1:n.651-29C>G | |
| XR_241242.1:n.1097-29C>G | ||
| NM_001363742.1:c.903-29C>G | NP_001350671.1:n.903-29C>G | |
| XM_005246084.2:c.471-29C>G | XP_005246141.1:n.471-29C>G | |
| XM_005246086.2:c.420-29C>G | XP_005246143.1:n.420-29C>G | |
| XM_006712608.3:c.651-29C>G | XP_006712671.1:n.651-29C>G | |
| XR_001738801.2:n.1033-29C>G | ||
| XR_241242.3:n.1084-29C>G | ||
| NM_030803.7:c.852-29C>G MANE Select | NP_110430.5:n.852-29C>G | |
| NM_001190266.2:c.600-29C>G | NP_001177195.1:n.600-29C>G | |
| NM_001190267.2:c.504-29C>G | NP_001177196.1:n.504-29C>G | |
| NM_001363742.2:c.903-29C>G | NP_001350671.1:n.903-29C>G | |
| NM_017974.4:c.795-29C>G | NP_060444.3:n.795-29C>G | |
| NM_198890.3:c.363-29C>G | NP_942593.2:n.363-29C>G |