Linked Data
dbSNP Id:
rs973613520
gnomAD v2:
15-75011968-C-T
gnomAD v3:
15-74719627-C-T
gnomAD v4:
15-74719627-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74719627C>T , CM000677.2:g.74719627C>T | GRCh38 |
| NC_000015.9:g.75011968C>T , CM000677.1:g.75011968C>T | GRCh37 |
| NC_000015.8:g.72799021C>T | NCBI36 |
| NG_008431.1:g.2086C>T | |
| NG_008431.2:g.2086C>T | |
| NG_061374.1:g.10902G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379727.8:c.*862G>A MANE Select | ENSP00000369050.3:n.*862G>A | |
| ENST00000379727.7:c.*862G>A | ENSP00000369050.3:n.*862G>A | |
| ENST00000395048.6:c.*862G>A | ENSP00000378488.2:n.*862G>A | |
| ENST00000612821.4:c.2317G>A | ENSP00000479744.1:n.2317G>A | |
| ENST00000617691.4:c.*862G>A | ENSP00000482863.1:n.*862G>A | |
| NM_000499.3:c.*862G>A | NP_000490.1:n.*862G>A | |
| XM_005254185.1:c.*862G>A | XP_005254242.1:n.*862G>A | |
| NM_000499.5:c.*862G>A | NP_000490.1:n.*862G>A | |
| NM_001319216.2:c.*862G>A | NP_001306145.1:n.*862G>A | |
| NM_001319217.2:c.*862G>A MANE Select | NP_001306146.1:n.*862G>A |