Linked Data
dbSNP Id:
rs200062073
ExAC:
1:226125303 C / T
gnomAD v2:
1-226125303-C-T
gnomAD v3:
1-225937603-C-T
gnomAD v4:
1-225937603-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225937603C>T , CM000663.2:g.225937603C>T | GRCh38 |
| NC_000001.10:g.226125303C>T , CM000663.1:g.226125303C>T | GRCh37 |
| NC_000001.9:g.224191926C>T | NCBI36 |
| NG_008118.1:g.8618G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366820.10:c.939G>A MANE Select | ENSP00000355785.5:p.Pro313= | |
| ENST00000366820.9:c.939G>A | ENSP00000355785.5:p.Pro313= | |
| ENST00000420304.6:c.837G>A | ENSP00000388009.2:p.Pro279= | |
| ENST00000616737.1:c.939G>A | ENSP00000484300.1:p.Pro313= | |
| NM_001172425.1:c.837G>A | NP_001165896.1:p.Pro279= | |
| NM_003240.3:c.939G>A | NP_003231.2:p.Pro313= | |
| NM_001172425.2:c.837G>A | NP_001165896.1:p.Pro279= | |
| NM_003240.4:c.939G>A | NP_003231.2:p.Pro313= | |
| NM_003240.5:c.939G>A MANE Select | NP_003231.2:p.Pro313= | |
| NM_001172425.3:c.837G>A | NP_001165896.1:p.Pro279= |