Linked Data
dbSNP Id:
rs375081848
gnomAD v2:
1-8045152-G-T
gnomAD v3:
1-7985092-G-T
gnomAD v4:
1-7985092-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7985092G>T , CM000663.2:g.7985092G>T | GRCh38 |
| NC_000001.10:g.8045152G>T , CM000663.1:g.8045152G>T | GRCh37 |
| NC_000001.9:g.7967739G>T | NCBI36 |
| NG_008271.1:g.28439G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338639.10:c.*38G>T MANE Select | ENSP00000340278.5:n.*38G>T | |
| ENST00000338639.9:c.*38G>T | ENSP00000340278.5:n.*38G>T | |
| ENST00000377488.5:c.*38G>T | ENSP00000366708.1:n.*38G>T | |
| ENST00000377491.5:c.*38G>T | ENSP00000366711.1:n.*38G>T | |
| ENST00000377493.9:c.*38G>T | ENSP00000466242.1:n.*38G>T | |
| ENST00000469225.1:c.521G>T | ENSP00000466756.1:n.521G>T | |
| ENST00000493678.5:c.*38G>T | ENSP00000418770.1:n.*38G>T | |
| NM_001123377.1:c.*38G>T | NP_001116849.1:n.*38G>T | |
| NM_007262.4:c.*38G>T | NP_009193.2:n.*38G>T | |
| XM_005263424.2:c.*38G>T | XP_005263481.1:n.*38G>T | |
| XM_005263424.3:c.*38G>T | XP_005263481.1:n.*38G>T | |
| NM_007262.5:c.*38G>T MANE Select | NP_009193.2:n.*38G>T | |
| NM_001123377.2:c.*38G>T | NP_001116849.1:n.*38G>T |