Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29917316C>T , CM000685.2:g.29917316C>T | GRCh38 |
| NC_000023.10:g.29935433C>T , CM000685.1:g.29935433C>T | GRCh37 |
| NC_000023.9:g.29845354C>T | NCBI36 |
| NG_008292.1:g.1334753C>T | |
| NG_008292.2:g.1334753C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378993.6:c.779-148C>T MANE Select | ENSP00000368278.1:n.779-148C>T | |
| ENST00000378993.5:c.779-148C>T | ENSP00000368278.1:n.779-148C>T | |
| NM_014271.3:c.779-148C>T | NP_055086.1:n.779-148C>T | |
| XM_005274441.1:c.779-148C>T | XP_005274498.1:n.779-148C>T | |
| XM_011545445.1:c.779-148C>T | XP_011543747.1:n.779-148C>T | |
| XM_017029240.1:c.779-148C>T | XP_016884729.1:n.779-148C>T | |
| XM_017029241.1:c.401-148C>T | XP_016884730.1:n.401-148C>T | |
| NM_014271.4:c.779-148C>T MANE Select | NP_055086.1:n.779-148C>T |