Linked Data
dbSNP Id:
rs757032457
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119136541A>T , CM000666.2:g.119136541A>T | GRCh38 |
| NC_000004.11:g.120057696A>T , CM000666.1:g.120057696A>T | GRCh37 |
| NC_000004.10:g.120277144A>T | NCBI36 |
| NG_029747.1:g.5758A>T , LRG_396:g.5758A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307128.6:c.16A>T MANE Select | ENSP00000306997.6:p.Thr6Ser | |
| ENST00000307128.5:c.16A>T | ENSP00000306997.5:p.Thr6Ser | |
| NM_016599.4:c.16A>T , LRG_396t1:c.16A>T | NP_057683.1:p.Thr6Ser | |
| XM_006714234.2:c.16A>T | XP_006714297.1:p.Thr6Ser | |
| XM_006714234.4:c.16A>T | XP_006714297.1:p.Thr6Ser | |
| NM_016599.5:c.16A>T MANE Select | NP_057683.1:p.Thr6Ser |