Linked Data
dbSNP Id:
rs779604507
ExAC:
1:204159869 T / G
gnomAD v2:
1-204159869-T-G
gnomAD v4:
1-204190741-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190741T>G , CM000663.2:g.204190741T>G | GRCh38 |
| NC_000001.10:g.204159869T>G , CM000663.1:g.204159869T>G | GRCh37 |
| NC_000001.9:g.202426492T>G | NCBI36 |
| NG_032151.1:g.10751A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.160A>C MANE Select | ENSP00000356162.4:p.Thr54Pro | |
| ENST00000367194.4:c.160A>C | ENSP00000356162.4:p.Thr54Pro | |
| ENST00000625357.1:c.160A>C | ENSP00000485957.1:p.Thr54Pro | |
| NM_002256.3:c.160A>C | NP_002247.3:p.Thr54Pro | |
| XM_011509525.1:c.160A>C | XP_011507827.1:p.Thr54Pro | |
| NM_002256.4:c.160A>C MANE Select | NP_002247.3:p.Thr54Pro |