Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541941T>G , CM000671.2:g.98541941T>G | GRCh38 |
| NC_000009.11:g.101304223T>G , CM000671.1:g.101304223T>G | GRCh37 |
| NC_000009.10:g.100344044T>G | NCBI36 |
| NG_016426.1:g.172257A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.562A>C MANE Select | ENSP00000259455.2:p.Lys188Gln | |
| ENST00000637410.1:n.340A>C | ||
| ENST00000637717.1:c.178A>C | ENSP00000490789.1:p.Lys60Gln | |
| ENST00000259455.3:c.562A>C | ENSP00000259455.2:p.Lys188Gln | |
| ENST00000477471.1:n.349A>C | ||
| ENST00000634227.1:n.336A>C | ||
| NM_005458.7:c.562A>C | NP_005449.5:p.Lys188Gln | |
| XM_017015331.2:c.268A>C | XP_016870820.1:p.Lys90Gln | |
| NM_005458.8:c.562A>C MANE Select | NP_005449.5:p.Lys188Gln |