Linked Data
dbSNP Id:
rs5361
ExAC:
1:169701060 T / G
gnomAD v2:
1-169701060-T-G
gnomAD v3:
1-169731919-T-G
gnomAD v4:
1-169731919-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169731919T>G , CM000663.2:g.169731919T>G | GRCh38 |
| NC_000001.10:g.169701060T>G , CM000663.1:g.169701060T>G | GRCh37 |
| NC_000001.9:g.167967684T>G | NCBI36 |
| NG_012124.1:g.7161A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333360.12:c.445A>C (SELE) MANE Select | ENSP00000331736.7:p.Ser149Arg | |
| ENST00000333360.11:c.445A>C (SELE) | ENSP00000331736.7:p.Ser149Arg | |
| ENST00000367774.1:c.445A>C (SELE) | ENSP00000356748.1:p.Ser149Arg | |
| ENST00000367775.5:c.445A>C (SELE) | ENSP00000356749.1:p.Ser149Arg | |
| ENST00000367776.5:c.445A>C (SELE) | ENSP00000356750.1:p.Ser149Arg | |
| ENST00000367777.5:c.445A>C (SELE) | ENSP00000356751.1:p.Ser149Arg | |
| ENST00000461085.1:n.128A>C (SELE) | ||
| ENST00000498289.5:n.851+47987T>G (FIRRM) | ||
| NM_000450.2:c.445A>C (SELE) MANE Select | NP_000441.2:p.Ser149Arg |