Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18130781C>G , CM000668.2:g.18130781C>G | GRCh38 |
| NC_000006.11:g.18131012C>G , CM000668.1:g.18131012C>G | GRCh37 |
| NC_000006.10:g.18238991C>G | NCBI36 |
| NG_012137.2:g.29363G>C | |
| NG_012137.3:g.29363G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000367.5:c.626-1G>C MANE Select | NP_000358.1:n.626-1G>C |
| ENST00000309983.5:c.626-1G>C MANE Select | ENSP00000312304.4:n.626-1G>C |
| NM_000367.3:c.626-1G>C | NP_000358.1:n.626-1G>C |
| NM_000367.4:c.626-1G>C | NP_000358.1:n.626-1G>C |
| NM_001346817.1:c.626-1G>C | NP_001333746.1:n.626-1G>C |
| NM_001346818.1:c.581-1G>C | NP_001333747.1:n.581-1G>C |
| ENST00000309983.4:c.626-1G>C | ENSP00000312304.4:n.626-1G>C |
| XM_011514839.1:c.581-1G>C | XP_011513141.1:n.581-1G>C |
| XM_011514840.1:c.557-1G>C | XP_011513142.1:n.557-1G>C |