Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186191953T>C , CM000666.2:g.186191953T>C | GRCh38 |
| NC_000004.11:g.187113107T>C , CM000666.1:g.187113107T>C | GRCh37 |
| NC_000004.10:g.187350101T>C | NCBI36 |
| NG_007965.1:g.5434T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207352.4:c.130T>C MANE Select | NP_997235.3:p.Trp44Arg |
| ENST00000378802.5:c.130T>C MANE Select | ENSP00000368079.4:p.Trp44Arg |
| NM_207352.3:c.130T>C | NP_997235.3:p.Trp44Arg |
| ENST00000378802.4:c.130T>C | ENSP00000368079.4:p.Trp44Arg |
| XM_005262935.2:c.130T>C | XP_005262992.1:p.Trp44Arg |
| XM_005262935.4:c.130T>C | XP_005262992.1:p.Trp44Arg |
| XM_017008037.1:c.-181T>C | XP_016863526.1:n.-181T>C |