Linked Data
dbSNP Id:
rs763047916
ExAC:
7:99367407 G / T
gnomAD v2:
7-99367407-G-T
gnomAD v3:
7-99769784-G-T
gnomAD v4:
7-99769784-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99769784G>T , CM000669.2:g.99769784G>T | GRCh38 |
| NC_000007.13:g.99367407G>T , CM000669.1:g.99367407G>T | GRCh37 |
| NC_000007.12:g.99205343G>T | NCBI36 |
| NG_008421.1:g.19402C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.505C>A | ENSP00000337915.3:p.Pro169Thr | |
| ENST00000651514.1:c.505C>A MANE Select | ENSP00000498939.1:p.Pro169Thr | |
| ENST00000651783.1:c.58-1277C>A | ENSP00000498924.1:n.58-1277C>A | |
| ENST00000652018.1:c.358C>A | ENSP00000498733.1:p.Pro120Thr | |
| ENST00000336411.6:c.505C>A | ENSP00000337915.2:p.Pro169Thr | |
| ENST00000354593.6:c.72-1282C>A | ENSP00000346607.2:n.72-1282C>A | |
| ENST00000480043.1:n.402C>A | ||
| NM_001202855.2:c.505C>A | NP_001189784.1:p.Pro169Thr | |
| NM_017460.5:c.505C>A | NP_059488.2:p.Pro169Thr | |
| XM_011515841.1:c.505C>A | XP_011514143.1:p.Pro169Thr | |
| XM_011515842.1:c.505C>A | XP_011514144.1:p.Pro169Thr | |
| NM_017460.6:c.505C>A MANE Select | NP_059488.2:p.Pro169Thr | |
| NM_001202855.3:c.505C>A | NP_001189784.1:p.Pro169Thr |