Linked Data
dbSNP Id:
rs1453744435
gnomAD v2:
1-197057544-C-T
gnomAD v3:
1-197088414-C-T
gnomAD v4:
1-197088414-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197088414C>T , CM000663.2:g.197088414C>T | GRCh38 |
| NC_000001.10:g.197057544C>T , CM000663.1:g.197057544C>T | GRCh37 |
| NC_000001.9:g.195324167C>T | NCBI36 |
| NG_015867.1:g.63281G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.3290G>A | ||
| ENST00000367409.9:c.10003G>A MANE Select | ENSP00000356379.4:p.Ala3335Thr | |
| ENST00000680265.1:c.10225G>A | ENSP00000505384.1:p.Ala3409Thr | |
| ENST00000680710.1:c.9979G>A | ENSP00000506676.1:p.Ala3327Thr | |
| ENST00000294732.11:c.5248G>A | ENSP00000294732.7:p.Ala1750Thr | |
| ENST00000367408.5:c.2998G>A | ENSP00000356378.1:p.Ala1000Thr | |
| ENST00000367409.8:c.10003G>A | ENSP00000356379.4:p.Ala3335Thr | |
| ENST00000612785.1:c.3961G>A | ENSP00000479244.1:p.Ala1321Thr | |
| NM_001206846.1:c.5248G>A | NP_001193775.1:p.Ala1750Thr | |
| NM_018136.4:c.10003G>A | NP_060606.3:p.Ala3335Thr | |
| NM_018136.5:c.10003G>A MANE Select | NP_060606.3:p.Ala3335Thr | |
| NM_001206846.2:c.5248G>A | NP_001193775.1:p.Ala1750Thr |