Linked Data
dbSNP Id:
rs17861085
gnomAD v2:
15-75012117-C-A
gnomAD v3:
15-74719776-C-A
gnomAD v4:
15-74719776-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74719776C>A , CM000677.2:g.74719776C>A | GRCh38 |
| NC_000015.9:g.75012117C>A , CM000677.1:g.75012117C>A | GRCh37 |
| NC_000015.8:g.72799170C>A | NCBI36 |
| NG_008431.1:g.2235C>A | |
| NG_008431.2:g.2235C>A | |
| NG_061374.1:g.10753G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379727.8:c.*713G>T MANE Select | ENSP00000369050.3:n.*713G>T | |
| ENST00000379727.7:c.*713G>T | ENSP00000369050.3:n.*713G>T | |
| ENST00000395048.6:c.*713G>T | ENSP00000378488.2:n.*713G>T | |
| ENST00000612821.4:c.2168G>T | ENSP00000479744.1:n.2168G>T | |
| ENST00000617691.4:c.*713G>T | ENSP00000482863.1:n.*713G>T | |
| NM_000499.3:c.*713G>T | NP_000490.1:n.*713G>T | |
| XM_005254185.1:c.*713G>T | XP_005254242.1:n.*713G>T | |
| NM_000499.5:c.*713G>T | NP_000490.1:n.*713G>T | |
| NM_001319216.2:c.*713G>T | NP_001306145.1:n.*713G>T | |
| NM_001319217.2:c.*713G>T MANE Select | NP_001306146.1:n.*713G>T |