Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61031749C>T , CM000664.2:g.61031749C>T | GRCh38 |
| NC_000002.11:g.61258884C>T , CM000664.1:g.61258884C>T | GRCh37 |
| NC_000002.10:g.61112388C>T | NCBI36 |
| NG_008665.1:g.19073C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002618.4:c.423C>T MANE Select | NP_002609.1:p.Ala141= |
| ENST00000295030.6:c.423C>T MANE Select | ENSP00000295030.4:p.Ala141= |
| NM_002618.3:c.423C>T | NP_002609.1:p.Ala141= |
| ENST00000295030.5:c.423C>T | ENSP00000295030.4:p.Ala141= |
| ENST00000472678.1:n.486C>T | |
| XM_011532904.1:c.306C>T | XP_011531206.1:p.Ala102= |