dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43928075T>G , CM000684.2:g.43928075T>G | GRCh38 |
| NC_000022.10:g.44323955T>G , CM000684.1:g.44323955T>G | GRCh37 |
| NC_000022.9:g.42655288T>G | NCBI36 |
| NG_008631.1:g.9337T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.421-749T>G MANE Select | ENSP00000216180.3:n.421-749T>G | |
| ENST00000216180.7:c.421-749T>G | ENSP00000216180.3:n.421-749T>G | |
| ENST00000406117.6:c.*53-749T>G | ENSP00000384668.2:n.*53-749T>G | |
| ENST00000423180.2:c.409-749T>G | ENSP00000397987.2:n.409-749T>G | |
| ENST00000478713.1:n.455-749T>G | ||
| NM_025225.2:c.421-749T>G | NP_079501.2:n.421-749T>G | |
| NM_025225.3:c.421-749T>G MANE Select | NP_079501.2:n.421-749T>G |