Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2717698C>A , CM000671.2:g.2717698C>A | GRCh38 |
| NC_000009.11:g.2717698C>A , CM000671.1:g.2717698C>A | GRCh37 |
| NC_000009.10:g.2707698C>A | NCBI36 |
| NG_012181.1:g.5173C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_133497.4:c.-42C>A MANE Select | NP_598004.1:n.-42C>A |
| ENST00000382082.4:c.-42C>A MANE Select | ENSP00000371514.3:n.-42C>A |
| NM_133497.3:c.-42C>A | NP_598004.1:n.-42C>A |
| ENST00000382082.3:c.-42C>A | ENSP00000371514.3:n.-42C>A |
| XR_929202.1:n.460C>A | |
| XR_929203.1:n.460C>A |