Linked Data
dbSNP Id:
rs1432105397
gnomAD v2:
19-6681993-C-T
gnomAD v3:
19-6681982-C-T
gnomAD v4:
19-6681982-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6681982C>T , CM000681.2:g.6681982C>T | GRCh38 |
| NC_000019.9:g.6681993C>T , CM000681.1:g.6681993C>T | GRCh37 |
| NC_000019.8:g.6632993C>T | NCBI36 |
| NG_009557.1:g.43670G>A , LRG_27:g.43670G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2657G>A | ||
| ENST00000695653.1:c.2218G>A | ENSP00000512084.1:p.Ala740Thr | |
| ENST00000695654.1:c.3334G>A | ENSP00000512085.1:p.Ala1112Thr | |
| ENST00000695689.1:c.280G>A | ENSP00000512101.1:n.280G>A | |
| ENST00000695690.1:n.500G>A | ||
| ENST00000695691.1:n.500G>A | ||
| ENST00000245907.11:c.4309G>A MANE Select | ENSP00000245907.4:p.Ala1437Thr | |
| ENST00000245907.10:c.4309G>A | ENSP00000245907.4:p.Ala1437Thr | |
| ENST00000596548.1:c.430G>A | ENSP00000469744.1:p.Ala144Thr | |
| ENST00000599899.5:n.1268G>A | ||
| ENST00000601008.1:c.242-4024G>A | ENSP00000471384.1:n.242-4024G>A | |
| NM_000064.3:c.4309G>A | NP_000055.2:p.Ala1437Thr | |
| NM_000064.4:c.4309G>A MANE Select | NP_000055.2:p.Ala1437Thr |