Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29349488T>C , CM000664.2:g.29349488T>C | GRCh38 |
| NC_000002.11:g.29572354T>C , CM000664.1:g.29572354T>C | GRCh37 |
| NC_000002.10:g.29425858T>C | NCBI36 |
| NG_009445.1:g.577079A>G , LRG_488:g.577079A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1283-21007A>G MANE Select | ENSP00000373700.3:n.1283-21007A>G | |
| ENST00000389048.7:c.1283-21007A>G | ENSP00000373700.3:n.1283-21007A>G | |
| ENST00000618119.4:c.152-21007A>G | ENSP00000482733.1:n.152-21007A>G | |
| NM_004304.4:c.1283-21007A>G | NP_004295.2:n.1283-21007A>G | |
| XR_939920.1:n.1346-676T>C | ||
| XR_939921.1:n.681-1972T>C | ||
| XR_001738688.2:n.2213-21007A>G | ||
| XR_939920.2:n.1236-676T>C | ||
| XR_939921.2:n.577-1972T>C | ||
| NM_004304.5:c.1283-21007A>G MANE Select | NP_004295.2:n.1283-21007A>G |