Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98604117T>G , CM000664.2:g.98604117T>G | GRCh38 |
| NC_000002.11:g.99220580T>G , CM000664.1:g.99220580T>G | GRCh37 |
| NC_000002.10:g.98587012T>G | NCBI36 |
| NG_031918.1:g.9402A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001008215.3:c.174A>C MANE Select | NP_001008216.1:p.Lys58Asn |
| ENST00000328709.8:c.174A>C MANE Select | ENSP00000330730.3:p.Lys58Asn |
| NM_001008215.2:c.174A>C | NP_001008216.1:p.Lys58Asn |
| ENST00000328709.7:c.174A>C | ENSP00000330730.3:p.Lys58Asn |
| ENST00000409997.1:c.174A>C | ENSP00000386934.1:p.Lys58Asn |
| ENST00000466848.1:n.151A>C | |
| ENST00000480666.1:n.674A>C | |
| ENST00000483527.5:n.320A>C |