Linked Data
dbSNP Id:
rs759658679
gnomAD v2:
1-59248243-G-A
gnomAD v3:
1-58782571-G-A
gnomAD v4:
1-58782571-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58782571G>A , CM000663.2:g.58782571G>A | GRCh38 |
| NC_000001.10:g.59248243G>A , CM000663.1:g.59248243G>A | GRCh37 |
| NC_000001.9:g.59020831G>A | NCBI36 |
| NG_047027.1:g.6543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710273.1:c.566C>T | ENSP00000518166.1:p.Pro189Leu | |
| ENST00000371222.4:c.500C>T MANE Select | ENSP00000360266.2:p.Pro167Leu | |
| ENST00000678696.1:c.500C>T | ENSP00000503132.1:p.Pro167Leu | |
| ENST00000371222.3:c.500C>T | ENSP00000360266.2:p.Pro167Leu | |
| NM_002228.3:c.500C>T | NP_002219.1:p.Pro167Leu | |
| NM_002228.4:c.500C>T MANE Select | NP_002219.1:p.Pro167Leu |