Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328446A>G , CM000664.2:g.29328446A>G | GRCh38 |
| NC_000002.11:g.29551312A>G , CM000664.1:g.29551312A>G | GRCh37 |
| NC_000002.10:g.29404816A>G | NCBI36 |
| NG_009445.1:g.598121T>C , LRG_488:g.598121T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1318T>C MANE Select | ENSP00000373700.3:p.Ser440Pro | |
| ENST00000389048.7:c.1318T>C | ENSP00000373700.3:p.Ser440Pro | |
| ENST00000618119.4:c.187T>C | ENSP00000482733.1:p.Ser63Pro | |
| NM_004304.4:c.1318T>C | NP_004295.2:p.Ser440Pro | |
| XR_939920.1:n.754A>G | ||
| XR_939921.1:n.680+5918A>G | ||
| XR_001738688.2:n.2248T>C | ||
| XR_939920.2:n.644A>G | ||
| XR_939921.2:n.576+5918A>G | ||
| NM_004304.5:c.1318T>C MANE Select | NP_004295.2:p.Ser440Pro |