Linked Data
dbSNP Id:
rs121434556
ExAC:
20:44637567 T / C
gnomAD v2:
20-44637567-T-C
gnomAD v4:
20-46008928-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46008928T>C , CM000682.2:g.46008928T>C | GRCh38 |
| NC_000020.10:g.44637567T>C , CM000682.1:g.44637567T>C | GRCh37 |
| NC_000020.9:g.44070974T>C | NCBI36 |
| NG_011468.1:g.5021T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372330.3:c.2T>C MANE Select | ENSP00000361405.3:p.Met1Thr | |
| NM_004994.2:c.2T>C | NP_004985.2:p.Met1Thr | |
| NM_004994.3:c.2T>C MANE Select | NP_004985.2:p.Met1Thr |