Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244451769C>T , CM000663.2:g.244451769C>T | GRCh38 |
| NC_000001.10:g.244615071C>T , CM000663.1:g.244615071C>T | GRCh37 |
| NC_000001.9:g.242681694C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001126.5:c.49G>A MANE Select | NP_001117.2:p.Asp17Asn |
| ENST00000366535.4:c.49G>A MANE Select | ENSP00000355493.3:p.Asp17Asn |
| NM_001126.3:c.49G>A | NP_001117.2:p.Asp17Asn |
| NM_001126.4:c.49G>A | NP_001117.2:p.Asp17Asn |
| NM_001365073.1:c.49G>A | NP_001352002.1:p.Asp17Asn |
| NM_001365073.2:c.49G>A | NP_001352002.1:p.Asp17Asn |
| ENST00000366535.3:c.49G>A | ENSP00000355493.3:p.Asp17Asn |
| XM_011544109.1:c.3+242G>A | XP_011542411.1:n.3+242G>A |