Linked Data
dbSNP Id:
rs567504397
gnomAD v2:
2-192914620-G-A
gnomAD v3:
2-192049894-G-A
gnomAD v4:
2-192049894-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.192049894G>A , CM000664.2:g.192049894G>A | GRCh38 |
| NC_000002.11:g.192914620G>A , CM000664.1:g.192914620G>A | GRCh37 |
| NC_000002.10:g.192622865G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272771.10:c.536+7785C>T MANE Select | ENSP00000272771.5:n.536+7785C>T | |
| ENST00000272771.9:c.536+7785C>T | ENSP00000272771.5:n.536+7785C>T | |
| ENST00000392314.5:c.536+7785C>T | ENSP00000376128.1:n.536+7785C>T | |
| NM_001305134.1:c.536+7785C>T | NP_001292063.1:n.536+7785C>T | |
| NM_016192.2:c.536+7785C>T | NP_057276.2:n.536+7785C>T | |
| NM_016192.3:c.536+7785C>T | NP_057276.2:n.536+7785C>T | |
| XM_005246437.2:c.536+7785C>T | XP_005246494.1:n.536+7785C>T | |
| XM_011510890.1:c.509+7785C>T | XP_011509192.1:n.509+7785C>T | |
| XR_923721.1:n.172-710G>A | ||
| XR_923722.1:n.172-710G>A | ||
| XM_011510890.3:c.509+7785C>T | XP_011509192.1:n.509+7785C>T | |
| XM_017003739.2:c.509+7785C>T | XP_016859228.1:n.509+7785C>T | |
| XM_017003740.2:c.536+7785C>T | XP_016859229.1:n.536+7785C>T | |
| XR_001739830.1:n.172-710G>A | ||
| NM_016192.4:c.536+7785C>T MANE Select | NP_057276.2:n.536+7785C>T | |
| NM_001305134.2:c.536+7785C>T | NP_001292063.1:n.536+7785C>T |