Linked Data
dbSNP Id:
rs11854949
gnomAD v2:
15-50978341-T-G
gnomAD v3:
15-50686144-T-G
gnomAD v4:
15-50686144-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50686144T>G , CM000677.2:g.50686144T>G | GRCh38 |
| NC_000015.9:g.50978341T>G , CM000677.1:g.50978341T>G | GRCh37 |
| NC_000015.8:g.48765633T>G | NCBI36 |
| NG_021363.1:g.5672A>C | |
| NG_021363.2:g.5672A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646667.1:c.3+387A>C MANE Select | ENSP00000495860.1:n.3+387A>C | |
| ENST00000676296.1:c.187+387A>C | ENSP00000502268.1:n.187+387A>C | |
| ENST00000313478.11:c.3+387A>C | ENSP00000320239.7:n.3+387A>C | |
| ENST00000560955.5:c.3+387A>C | ENSP00000453277.1:n.3+387A>C | |
| NM_001301212.1:c.3+387A>C | NP_001288141.1:n.3+387A>C | |
| NM_017672.5:c.3+387A>C | NP_060142.3:n.3+387A>C | |
| XM_005254486.2:c.3+387A>C | XP_005254543.1:n.3+387A>C | |
| XM_005254487.2:c.3+387A>C | XP_005254544.1:n.3+387A>C | |
| XM_011521712.1:c.3+387A>C | XP_011520014.1:n.3+387A>C | |
| XR_931853.1:n.285+387A>C | ||
| NR_149152.1:n.285+387A>C | ||
| NR_149153.1:n.285+387A>C | ||
| NR_149154.1:n.285+387A>C | ||
| XM_005254486.4:c.3+387A>C | XP_005254543.1:n.3+387A>C | |
| NM_017672.6:c.3+387A>C MANE Select | NP_060142.3:n.3+387A>C | |
| NM_001301212.2:c.3+387A>C | NP_001288141.1:n.3+387A>C | |
| NR_149152.2:n.267+387A>C | ||
| NR_149153.2:n.267+387A>C | ||
| NR_149154.2:n.267+387A>C |