Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37874070C>A , CM000667.2:g.37874070C>A | GRCh38 |
| NC_000005.9:g.37874172C>A , CM000667.1:g.37874172C>A | GRCh37 |
| NC_000005.8:g.37909929C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001278094.1:c.-853C>A | NP_001265023.1:n.-853C>A | |
| NR_103441.1:n.251-37C>A | ||
| NR_103442.1:n.2560-37C>A | ||
| XM_011513926.1:c.-816-37C>A | XP_011512228.1:n.-816-37C>A | |
| NR_103441.2:n.251-37C>A | ||
| NR_145476.1:n.270-37C>A |