Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033554G>C , CM000663.2:g.115033554G>C | GRCh38 |
| NC_000001.10:g.115576175G>C , CM000663.1:g.115576175G>C | GRCh37 |
| NC_000001.9:g.115377698G>C | NCBI36 |
| NG_015891.1:g.8761G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256592.3:c.162+30G>C MANE Select | ENSP00000256592.1:n.162+30G>C | |
| ENST00000256592.2:c.162+30G>C | ENSP00000256592.1:n.162+30G>C | |
| ENST00000369517.1:c.162+30G>C | ENSP00000358530.1:n.162+30G>C | |
| NM_000549.4:c.162+30G>C | NP_000540.2:n.162+30G>C | |
| XM_011542065.1:c.162+30G>C | XP_011540367.1:n.162+30G>C | |
| XM_011542065.2:c.162+30G>C | XP_011540367.1:n.162+30G>C | |
| NM_000549.5:c.162+30G>C MANE Select | NP_000540.2:n.162+30G>C |