Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328848T>G , CM000664.2:g.29328848T>G | GRCh38 |
| NC_000002.11:g.29551714T>G , CM000664.1:g.29551714T>G | GRCh37 |
| NC_000002.10:g.29405218T>G | NCBI36 |
| NG_009445.1:g.597719A>C , LRG_488:g.597719A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1283-367A>C MANE Select | ENSP00000373700.3:n.1283-367A>C | |
| ENST00000389048.7:c.1283-367A>C | ENSP00000373700.3:n.1283-367A>C | |
| ENST00000618119.4:c.152-367A>C | ENSP00000482733.1:n.152-367A>C | |
| NM_004304.4:c.1283-367A>C | NP_004295.2:n.1283-367A>C | |
| XR_939920.1:n.818-77T>G | ||
| XR_939921.1:n.680+6320T>G | ||
| XR_001738688.2:n.2213-367A>C | ||
| XR_939920.2:n.708-77T>G | ||
| XR_939921.2:n.576+6320T>G | ||
| NM_004304.5:c.1283-367A>C MANE Select | NP_004295.2:n.1283-367A>C |