Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29717507C>G , CM000664.2:g.29717507C>G | GRCh38 |
| NC_000002.11:g.29940373C>G , CM000664.1:g.29940373C>G | GRCh37 |
| NC_000002.10:g.29793877C>G | NCBI36 |
| NG_009445.1:g.209060G>C , LRG_488:g.209060G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.787+71G>C MANE Select | ENSP00000373700.3:n.787+71G>C | |
| ENST00000389048.7:c.787+71G>C | ENSP00000373700.3:n.787+71G>C | |
| ENST00000618119.4:c.-345+71G>C | ENSP00000482733.1:n.-345+71G>C | |
| NM_004304.4:c.787+71G>C | NP_004295.2:n.787+71G>C | |
| XR_001738688.2:n.1717+71G>C | ||
| NM_004304.5:c.787+71G>C MANE Select | NP_004295.2:n.787+71G>C |