Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61031713A>C , CM000664.2:g.61031713A>C | GRCh38 |
| NC_000002.11:g.61258848A>C , CM000664.1:g.61258848A>C | GRCh37 |
| NC_000002.10:g.61112352A>C | NCBI36 |
| NG_008665.1:g.19037A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002618.4:c.387A>C MANE Select | NP_002609.1:p.Ala129= |
| ENST00000295030.6:c.387A>C MANE Select | ENSP00000295030.4:p.Ala129= |
| NM_002618.3:c.387A>C | NP_002609.1:p.Ala129= |
| ENST00000295030.5:c.387A>C | ENSP00000295030.4:p.Ala129= |
| ENST00000472678.1:n.450A>C | |
| XM_011532904.1:c.270A>C | XP_011531206.1:p.Ala90= |