Linked Data
dbSNP Id:
rs67784355
ExAC:
7:99359829 G / T
gnomAD v2:
7-99359829-G-T
gnomAD v3:
7-99762206-G-T
gnomAD v4:
7-99762206-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99762206G>T , CM000669.2:g.99762206G>T | GRCh38 |
| NC_000007.13:g.99359829G>T , CM000669.1:g.99359829G>T | GRCh37 |
| NC_000007.12:g.99197765G>T | NCBI36 |
| NG_008421.1:g.26980C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336411.7:c.1088C>A | ENSP00000337915.3:p.Thr363Lys | |
| ENST00000651162.1:n.523C>A | ||
| ENST00000651514.1:c.1088C>A MANE Select | ENSP00000498939.1:p.Thr363Lys | |
| ENST00000651783.1:c.629C>A | ENSP00000498924.1:p.Thr210Lys | |
| ENST00000652018.1:c.941C>A | ENSP00000498733.1:p.Thr314Lys | |
| ENST00000336411.6:c.1088C>A | ENSP00000337915.2:p.Thr363Lys | |
| ENST00000354593.6:c.638C>A | ENSP00000346607.2:p.Thr213Lys | |
| NM_001202855.2:c.1085C>A | NP_001189784.1:p.Thr362Lys | |
| NM_017460.5:c.1088C>A | NP_059488.2:p.Thr363Lys | |
| XM_011515841.1:c.1088C>A | XP_011514143.1:p.Thr363Lys | |
| XM_011515842.1:c.1085C>A | XP_011514144.1:p.Thr362Lys | |
| NM_017460.6:c.1088C>A MANE Select | NP_059488.2:p.Thr363Lys | |
| NM_001202855.3:c.1085C>A | NP_001189784.1:p.Thr362Lys |