Linked Data
dbSNP Id:
rs774191725
ExAC:
1:204159816 C / T
gnomAD v2:
1-204159816-C-T
gnomAD v4:
1-204190688-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190688C>T , CM000663.2:g.204190688C>T | GRCh38 |
| NC_000001.10:g.204159816C>T , CM000663.1:g.204159816C>T | GRCh37 |
| NC_000001.9:g.202426439C>T | NCBI36 |
| NG_032151.1:g.10804G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.213G>A MANE Select | ENSP00000356162.4:p.Leu71= | |
| ENST00000367194.4:c.213G>A | ENSP00000356162.4:p.Leu71= | |
| ENST00000625357.1:c.213G>A | ENSP00000485957.1:p.Leu71= | |
| NM_002256.3:c.213G>A | NP_002247.3:p.Leu71= | |
| XM_011509525.1:c.213G>A | XP_011507827.1:p.Leu71= | |
| NM_002256.4:c.213G>A MANE Select | NP_002247.3:p.Leu71= |