Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98578049T>G , CM000671.2:g.98578049T>G | GRCh38 |
| NC_000009.11:g.101340331T>G , CM000671.1:g.101340331T>G | GRCh37 |
| NC_000009.10:g.100380152T>G | NCBI36 |
| NG_016426.1:g.136149A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.345A>C MANE Select | ENSP00000259455.2:p.Lys115Asn | |
| ENST00000637410.1:n.123A>C | ||
| ENST00000637717.1:c.-40A>C | ENSP00000490789.1:n.-40A>C | |
| ENST00000259455.3:c.345A>C | ENSP00000259455.2:p.Lys115Asn | |
| ENST00000634227.1:n.119A>C | ||
| NM_005458.7:c.345A>C | NP_005449.5:p.Lys115Asn | |
| NM_005458.8:c.345A>C MANE Select | NP_005449.5:p.Lys115Asn |