Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871276T>G , CM000667.2:g.14871276T>G | GRCh38 |
| NC_000005.9:g.14871385T>G , CM000667.1:g.14871385T>G | GRCh37 |
| NC_000005.8:g.14924385T>G | NCBI36 |
| NG_008273.1:g.5503A>C | |
| NG_008273.2:g.5510A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.96+76A>C MANE Select | ENSP00000284268.6:n.96+76A>C | |
| ENST00000284268.6:c.96+76A>C | ENSP00000284268.6:n.96+76A>C | |
| ENST00000505140.1:c.172A>C | ENSP00000426332.1:p.Ser58Arg | |
| ENST00000513115.1:n.121+76A>C | ||
| NM_054027.4:c.96+76A>C | NP_473368.1:n.96+76A>C | |
| XM_011514067.1:c.96+76A>C | XP_011512369.1:n.96+76A>C | |
| NM_054027.5:c.96+76A>C | NP_473368.1:n.96+76A>C | |
| NM_054027.6:c.96+76A>C MANE Select | NP_473368.1:n.96+76A>C |