Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66018915A>G , CM000673.2:g.66018915A>G | GRCh38 |
| NC_000011.9:g.65786386A>G , CM000673.1:g.65786386A>G | GRCh37 |
| NC_000011.8:g.65542962A>G | NCBI36 |
| NG_016285.1:g.12603T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053054.4:c.2126-13T>C MANE Select | NP_444282.3:n.2126-13T>C |
| ENST00000312106.6:c.2126-13T>C MANE Select | ENSP00000309052.5:n.2126-13T>C |
| NM_053054.3:c.2126-13T>C | NP_444282.3:n.2126-13T>C |
| ENST00000312106.5:c.2126-13T>C | ENSP00000309052.5:n.2126-13T>C |
| ENST00000529244.1:n.327-13T>C | |
| XR_002957121.1:n.2200-13T>C | |
| XR_002957122.1:n.2154-13T>C | |
| XR_949785.1:n.2266-13T>C | |
| XR_949785.2:n.2264-13T>C | |
| XR_949787.1:n.2219-13T>C | |
| XR_949787.2:n.2218-13T>C |