Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119164187T>C , CM000666.2:g.119164187T>C | GRCh38 |
| NC_000004.11:g.120085342T>C , CM000666.1:g.120085342T>C | GRCh37 |
| NC_000004.10:g.120304790T>C | NCBI36 |
| NG_029747.1:g.33404T>C , LRG_396:g.33404T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307128.6:c.377-24T>C MANE Select | ENSP00000306997.6:n.377-24T>C | |
| ENST00000307128.5:c.377-24T>C | ENSP00000306997.5:n.377-24T>C | |
| NM_016599.4:c.377-24T>C , LRG_396t1:c.377-24T>C | NP_057683.1:n.377-24T>C | |
| XM_006714234.2:c.377-24T>C | XP_006714297.1:n.377-24T>C | |
| XM_006714234.4:c.377-24T>C | XP_006714297.1:n.377-24T>C | |
| NM_016599.5:c.377-24T>C MANE Select | NP_057683.1:n.377-24T>C |