Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328572G>T , CM000664.2:g.29328572G>T | GRCh38 |
| NC_000002.11:g.29551438G>T , CM000664.1:g.29551438G>T | GRCh37 |
| NC_000002.10:g.29404942G>T | NCBI36 |
| NG_009445.1:g.597995C>A , LRG_488:g.597995C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1283-91C>A MANE Select | ENSP00000373700.3:n.1283-91C>A | |
| ENST00000389048.7:c.1283-91C>A | ENSP00000373700.3:n.1283-91C>A | |
| ENST00000618119.4:c.152-91C>A | ENSP00000482733.1:n.152-91C>A | |
| NM_004304.4:c.1283-91C>A | NP_004295.2:n.1283-91C>A | |
| XR_939920.1:n.817+63G>T | ||
| XR_939921.1:n.680+6044G>T | ||
| XR_001738688.2:n.2213-91C>A | ||
| XR_939920.2:n.707+63G>T | ||
| XR_939921.2:n.576+6044G>T | ||
| NM_004304.5:c.1283-91C>A MANE Select | NP_004295.2:n.1283-91C>A |