Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35876909C>A , CM000667.2:g.35876909C>A | GRCh38 |
| NC_000005.9:g.35877011C>A , CM000667.1:g.35877011C>A | GRCh37 |
| NC_000005.8:g.35912768C>A | NCBI36 |
| NG_009567.1:g.25021C>A , LRG_74:g.25021C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002185.5:c.*423C>A MANE Select | NP_002176.2:n.*423C>A |
| ENST00000303115.8:c.*423C>A MANE Select | ENSP00000306157.3:n.*423C>A |
| NM_002185.3:c.*423C>A | NP_002176.2:n.*423C>A |
| NM_002185.4:c.*423C>A | NP_002176.2:n.*423C>A |
| NR_120485.1:n.1643C>A | |
| NR_120485.2:n.1669C>A | |
| NR_120485.3:n.1627C>A | |
| ENST00000303115.7:c.*423C>A | ENSP00000306157.3:n.*423C>A |
| XM_005248299.4:c.*920C>A | XP_005248356.1:n.*920C>A |