Linked Data
dbSNP Id:
rs233115
gnomAD v2:
1-85786977-G-A
gnomAD v3:
1-85321294-G-A
gnomAD v4:
1-85321294-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.85321294G>A , CM000663.2:g.85321294G>A | GRCh38 |
| NC_000001.10:g.85786977G>A , CM000663.1:g.85786977G>A | GRCh37 |
| NC_000001.9:g.85559565G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284031.13:c.*158C>T MANE Select | ENSP00000284031.8:n.*158C>T | |
| ENST00000426972.8:c.*158C>T | ENSP00000411189.4:n.*158C>T | |
| ENST00000284031.12:c.*158C>T | ENSP00000284031.8:n.*158C>T | |
| ENST00000426972.7:c.*158C>T | ENSP00000411189.4:n.*158C>T | |
| ENST00000483110.5:n.1096C>T | ||
| ENST00000535924.6:c.*158C>T | ENSP00000439045.1:n.*158C>T | |
| ENST00000539042.3:c.*150+8C>T | ENSP00000438604.1:n.*150+8C>T | |
| NM_001134445.1:c.*158C>T | NP_001127917.1:n.*158C>T | |
| NM_012137.3:c.*158C>T | NP_036269.1:n.*158C>T | |
| XM_005270707.2:c.*158C>T | XP_005270764.1:n.*158C>T | |
| XM_005270709.2:c.*158C>T | XP_005270766.1:n.*158C>T | |
| XM_005270710.2:c.*158C>T | XP_005270767.1:n.*158C>T | |
| XM_006710544.1:c.*158C>T | XP_006710607.1:n.*158C>T | |
| XM_011541158.1:c.*158C>T | XP_011539460.1:n.*158C>T | |
| NM_001330655.1:c.*158C>T | NP_001317584.1:n.*158C>T | |
| XM_017000889.1:c.*158C>T | XP_016856378.1:n.*158C>T | |
| XM_024446130.1:c.*158C>T | XP_024301898.1:n.*158C>T | |
| NM_012137.4:c.*158C>T MANE Select | NP_036269.1:n.*158C>T | |
| NM_001134445.2:c.*158C>T | NP_001127917.1:n.*158C>T | |
| NM_001330655.2:c.*158C>T | NP_001317584.1:n.*158C>T |