ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002104 (SAS)
Exomes Max Group AF
0.00002194 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58430937C>A , CM000665.2:g.58430937C>A | GRCh38 |
| NC_000003.11:g.58416664C>A , CM000665.1:g.58416664C>A | GRCh37 |
| NC_000003.10:g.58391704C>A | NCBI36 |
| NG_016860.1:g.7916G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302746.11:c.309G>T MANE Select | ENSP00000307241.6:p.Gly103= | |
| ENST00000302746.10:c.309G>T | ENSP00000307241.6:p.Gly103= | |
| ENST00000383714.8:c.255G>T | ENSP00000373220.4:p.Gly85= | |
| ENST00000461692.5:n.422G>T | ||
| ENST00000469364.5:c.309G>T | ENSP00000419580.1:p.Gly103= | |
| ENST00000474765.1:c.255G>T | ENSP00000418448.1:p.Gly85= | |
| ENST00000479945.1:n.2714G>T | ||
| ENST00000480626.5:n.401G>T | ||
| ENST00000485460.5:c.309G>T | ENSP00000417267.1:p.Gly103= | |
| NM_000925.3:c.309G>T | NP_000916.2:p.Gly103= | |
| NM_001173468.1:c.309G>T | NP_001166939.1:p.Gly103= | |
| NM_001315536.1:c.255G>T | NP_001302465.1:p.Gly85= | |
| NR_033384.1:n.422G>T | ||
| NM_000925.4:c.309G>T MANE Select | NP_000916.2:p.Gly103= | |
| NM_001173468.2:c.309G>T | NP_001166939.1:p.Gly103= | |
| NM_001315536.2:c.255G>T | NP_001302465.1:p.Gly85= | |
| NR_033384.2:n.415G>T |