Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541887G>A , CM000671.2:g.98541887G>A | GRCh38 |
| NC_000009.11:g.101304169G>A , CM000671.1:g.101304169G>A | GRCh37 |
| NC_000009.10:g.100343990G>A | NCBI36 |
| NG_016426.1:g.172311C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.616C>T MANE Select | ENSP00000259455.2:p.Gln206Ter | |
| ENST00000637410.1:n.394C>T | ||
| ENST00000637717.1:c.232C>T | ||
| ENST00000259455.3:c.616C>T | ENSP00000259455.2:p.Gln206Ter | |
| ENST00000477471.1:n.403C>T | ||
| ENST00000634227.1:n.390C>T | ||
| NM_005458.7:c.616C>T | NP_005449.5:p.Gln206Ter | |
| XM_017015331.2:c.322C>T | XP_016870820.1:p.Gln108Ter | |
| NM_005458.8:c.616C>T MANE Select | NP_005449.5:p.Gln206Ter |