Linked Data
ClinVar Variation Id:
1976788
ClinVar RCV Id:
RCV002731596
dbSNP Id:
rs779385963
gnomAD v4:
16-20348659-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20348659G>T , CM000678.2:g.20348659G>T | GRCh38 |
| NC_000016.9:g.20359981G>T , CM000678.1:g.20359981G>T | GRCh37 |
| NC_000016.8:g.20267482G>T | NCBI36 |
| NG_008151.1:g.9057C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396138.9:c.642C>A MANE Select | ENSP00000379442.5:p.Ala214= | |
| ENST00000302509.8:c.642C>A | ENSP00000306279.4:p.Ala214= | |
| ENST00000396134.6:c.741C>A | ENSP00000379438.2:p.Ala247= | |
| ENST00000396138.8:c.789C>A | ENSP00000379442.4:p.Ala263= | |
| ENST00000570689.5:c.642C>A | ENSP00000460548.1:p.Ala214= | |
| NM_001008389.2:c.642C>A | NP_001008390.1:p.Ala214= | |
| NM_001278614.1:c.741C>A | NP_001265543.1:p.Ala247= | |
| NM_003361.3:c.642C>A | NP_003352.2:p.Ala214= | |
| XM_011545934.1:c.726C>A | XP_011544236.1:p.Ala242= | |
| XM_011545935.1:c.642C>A | XP_011544237.1:p.Ala214= | |
| XM_011545936.1:c.642C>A | XP_011544238.1:p.Ala214= | |
| XM_011545937.1:c.642C>A | XP_011544239.1:p.Ala214= | |
| XM_011545938.1:c.642C>A | XP_011544240.1:p.Ala214= | |
| XM_011545939.1:c.726C>A | XP_011544241.1:p.Ala242= | |
| XM_011545940.1:c.789C>A | XP_011544242.1:p.Ala263= | |
| XM_011545934.2:c.642C>A | XP_011544236.2:p.Ala214= | |
| XM_011545940.2:c.642C>A | XP_011544242.2:p.Ala214= | |
| XM_024450433.1:c.642C>A | XP_024306201.1:p.Ala214= | |
| NM_001008389.3:c.642C>A | NP_001008390.1:p.Ala214= | |
| NM_001278614.2:c.741C>A | NP_001265543.1:p.Ala247= | |
| NM_001378232.1:c.642C>A | NP_001365161.1:p.Ala214= | |
| NM_001378233.1:c.642C>A | NP_001365162.1:p.Ala214= | |
| NM_001378234.1:c.642C>A | NP_001365163.1:p.Ala214= | |
| NM_001378235.1:c.642C>A | NP_001365164.1:p.Ala214= | |
| NM_001378237.1:c.642C>A | NP_001365166.1:p.Ala214= | |
| NM_003361.4:c.642C>A MANE Select | NP_003352.2:p.Ala214= | |
| NR_165456.1:n.867C>A |