Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541962C>G , CM000671.2:g.98541962C>G | GRCh38 |
| NC_000009.11:g.101304244C>G , CM000671.1:g.101304244C>G | GRCh37 |
| NC_000009.10:g.100344065C>G | NCBI36 |
| NG_016426.1:g.172236G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.541G>C MANE Select | ENSP00000259455.2:p.Ala181Pro | |
| ENST00000637410.1:n.319G>C | ||
| ENST00000637717.1:c.157G>C | ENSP00000490789.1:p.Ala53Pro | |
| ENST00000259455.3:c.541G>C | ENSP00000259455.2:p.Ala181Pro | |
| ENST00000477471.1:n.328G>C | ||
| ENST00000634227.1:n.315G>C | ||
| NM_005458.7:c.541G>C | NP_005449.5:p.Ala181Pro | |
| XM_017015331.2:c.247G>C | XP_016870820.1:p.Ala83Pro | |
| NM_005458.8:c.541G>C MANE Select | NP_005449.5:p.Ala181Pro |