Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147831792C>T , CM000667.2:g.147831792C>T | GRCh38 |
| NC_000005.9:g.147211355C>T , CM000667.1:g.147211355C>T | GRCh37 |
| NC_000005.8:g.147191548C>T | NCBI36 |
| NG_008356.2:g.12440G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001354966.1:c.-215G>A | NP_001341895.1:n.-215G>A |
| NM_001354966.2:c.-215G>A | NP_001341895.1:n.-215G>A |
| NM_003122.4:c.-191-24G>A | NP_003113.2:n.-191-24G>A |
| NM_003122.5:c.-191-24G>A | NP_003113.2:n.-191-24G>A |