Linked Data
dbSNP Id:
rs898740309
gnomAD v2:
17-42327046-T-A
gnomAD v3:
17-44249678-T-A
gnomAD v4:
17-44249678-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44249678T>A , CM000679.2:g.44249678T>A | GRCh38 |
| NC_000017.10:g.42327046T>A , CM000679.1:g.42327046T>A | GRCh37 |
| NC_000017.9:g.39682572T>A | NCBI36 |
| NG_007498.1:g.23457A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.*780A>T MANE Select | ENSP00000262418.6:n.*780A>T | |
| ENST00000262418.10:c.*780A>T | ENSP00000262418.6:n.*780A>T | |
| ENST00000399246.3:c.*780A>T | ENSP00000382190.3:n.*780A>T | |
| ENST00000631130.1:c.-428A>T | ENSP00000486787.1:n.-428A>T | |
| NM_000342.3:c.*780A>T | NP_000333.1:n.*780A>T | |
| XM_005257593.3:c.*780A>T | XP_005257650.1:n.*780A>T | |
| XM_011525129.1:c.*780A>T | XP_011523431.1:n.*780A>T | |
| XM_005257593.5:c.*780A>T | XP_005257650.1:n.*780A>T | |
| XM_011525129.2:c.*780A>T | XP_011523431.1:n.*780A>T | |
| NM_000342.4:c.*780A>T MANE Select | NP_000333.1:n.*780A>T |