Linked Data
dbSNP Id:
rs749474029
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093515A>T , CM000664.2:g.176093515A>T | GRCh38 |
| NC_000002.11:g.176958243A>T , CM000664.1:g.176958243A>T | GRCh37 |
| NC_000002.10:g.176666489A>T | NCBI36 |
| NG_008137.1:g.5712A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.625A>T MANE Select | ENSP00000376322.3:p.Met209Leu | |
| ENST00000392539.3:c.625A>T | ENSP00000376322.3:p.Met209Leu | |
| NM_000523.3:c.625A>T | NP_000514.2:p.Met209Leu | |
| XM_011511068.1:c.725-965A>T | XP_011509370.1:n.725-965A>T | |
| XM_011511068.2:c.725-965A>T | XP_011509370.1:n.725-965A>T | |
| NM_000523.4:c.625A>T MANE Select | NP_000514.2:p.Met209Leu |