Linked Data
dbSNP Id:
rs775634145
ExAC:
1:59042422 G / T
gnomAD v2:
1-59042422-G-T
gnomAD v4:
1-58576750-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58576750G>T , CM000663.2:g.58576750G>T | GRCh38 |
| NC_000001.10:g.59042422G>T , CM000663.1:g.59042422G>T | GRCh37 |
| NC_000001.9:g.58815010G>T | NCBI36 |
| NG_016237.1:g.5745C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.407C>A MANE Select | ENSP00000360269.2:p.Thr136Lys | |
| ENST00000371225.3:c.407C>A | ENSP00000360269.2:p.Thr136Lys | |
| NM_002353.2:c.407C>A | NP_002344.2:p.Thr136Lys | |
| NM_002353.3:c.407C>A MANE Select | NP_002344.2:p.Thr136Lys |