Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49094362C>T , CM000674.2:g.49094362C>T | GRCh38 |
| NC_000012.11:g.49488145C>T , CM000674.1:g.49488145C>T | GRCh37 |
| NC_000012.10:g.47774412C>T | NCBI36 |
| NG_008973.1:g.5458G>A | |
| NG_008973.2:g.5458G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021044.4:c.151G>A MANE Select | NP_066382.1:p.Gly51Ser |
| ENST00000649637.2:c.151G>A MANE Select | ENSP00000497483.1:p.Gly51Ser |
| NM_021044.2:c.151G>A | NP_066382.1:p.Gly51Ser |
| ENST00000266991.2:c.151G>A | ENSP00000266991.2:p.Gly51Ser |
| XR_001749126.1:n.1548+174C>T | |
| XR_001749127.2:n.1364+174C>T | |
| XR_001749128.1:n.332+174C>T | |
| XR_944932.1:n.2211+174C>T | |
| XR_944933.1:n.1868+174C>T | |
| XR_944934.1:n.995+174C>T |