Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98578048C>G , CM000671.2:g.98578048C>G | GRCh38 |
| NC_000009.11:g.101340330C>G , CM000671.1:g.101340330C>G | GRCh37 |
| NC_000009.10:g.100380151C>G | NCBI36 |
| NG_016426.1:g.136150G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259455.4:c.346G>C MANE Select | ENSP00000259455.2:p.Ala116Pro | |
| ENST00000637410.1:n.124G>C | ||
| ENST00000637717.1:c.-39G>C | ENSP00000490789.1:n.-39G>C | |
| ENST00000259455.3:c.346G>C | ENSP00000259455.2:p.Ala116Pro | |
| ENST00000634227.1:n.120G>C | ||
| NM_005458.7:c.346G>C | NP_005449.5:p.Ala116Pro | |
| NM_005458.8:c.346G>C MANE Select | NP_005449.5:p.Ala116Pro |