Linked Data
dbSNP Id:
rs757473117
ExAC:
7:99358509 A / G
gnomAD v2:
7-99358509-A-G
gnomAD v4:
7-99760886-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99760886A>G , CM000669.2:g.99760886A>G | GRCh38 |
| NC_000007.13:g.99358509A>G , CM000669.1:g.99358509A>G | GRCh37 |
| NC_000007.12:g.99196445A>G | NCBI36 |
| NG_008421.1:g.28300T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1442T>C | ENSP00000337915.3:p.Met481Thr | |
| ENST00000651162.1:n.784T>C | ||
| ENST00000651514.1:c.1349T>C MANE Select | ENSP00000498939.1:p.Met450Thr | |
| ENST00000651783.1:c.890T>C | ENSP00000498924.1:p.Met297Thr | |
| ENST00000652018.1:c.1202T>C | ENSP00000498733.1:p.Met401Thr | |
| ENST00000336411.6:c.1349T>C | ENSP00000337915.2:p.Met450Thr | |
| ENST00000354593.6:c.899T>C | ENSP00000346607.2:p.Met300Thr | |
| NM_001202855.2:c.1346T>C | NP_001189784.1:p.Met449Thr | |
| NM_017460.5:c.1349T>C | NP_059488.2:p.Met450Thr | |
| XM_011515841.1:c.1442T>C | XP_011514143.1:p.Met481Thr | |
| XM_011515842.1:c.1439T>C | XP_011514144.1:p.Met480Thr | |
| NM_017460.6:c.1349T>C MANE Select | NP_059488.2:p.Met450Thr | |
| NM_001202855.3:c.1346T>C | NP_001189784.1:p.Met449Thr |