ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45553553G>A , CM000681.2:g.45553553G>A | GRCh38 |
| NC_000019.9:g.46056811G>A , CM000681.1:g.46056811G>A | GRCh37 |
| NC_000019.8:g.50748651G>A | NCBI36 |
| NG_013332.1:g.36312C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323060.4:c.143-24097C>T | ENSP00000319817.3:n.143-24097C>T | |
| ENST00000263275.5:c.501C>T MANE Select | ENSP00000263275.4:p.Gly167= | |
| ENST00000263275.4:c.501C>T | ENSP00000263275.3:p.Gly167= | |
| ENST00000323060.3:c.143-24097C>T | ENSP00000319817.3:n.143-24097C>T | |
| ENST00000544371.1:c.342C>T | ENSP00000442839.1:p.Gly114= | |
| NM_001017989.2:c.143-24097C>T | NP_001017989.2:n.143-24097C>T | |
| NM_025136.3:c.501C>T | NP_079412.1:p.Gly167= | |
| XM_005259278.2:c.342C>T | XP_005259335.1:p.Gly114= | |
| XM_006723403.2:c.342C>T | XP_006723466.1:p.Gly114= | |
| XM_011527348.1:c.-17-24097C>T | XP_011525650.1:n.-17-24097C>T | |
| XM_006723403.4:c.342C>T | XP_006723466.1:p.Gly114= | |
| NM_001017989.3:c.143-24097C>T | NP_001017989.2:n.143-24097C>T | |
| NM_025136.4:c.501C>T MANE Select | NP_079412.1:p.Gly167= |