Linked Data
ClinVar Variation Id:
511091
ClinVar RCV Id:
RCV000612255
dbSNP Id:
rs8103142
ExAC:
19:39735106 T / C
gnomAD v2:
19-39735106-T-C
gnomAD v3:
19-39244466-T-C
gnomAD v4:
19-39244466-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39244466T>C , CM000681.2:g.39244466T>C | GRCh38 |
| NC_000019.9:g.39735106T>C , CM000681.1:g.39735106T>C | GRCh37 |
| NC_000019.8:g.44426946T>C | NCBI36 |
| NG_042193.1:g.5506A>G | |
| NG_055295.1:g.9391A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613087.5:c.221A>G | ENSP00000481633.1:p.Lys74Arg | |
| ENST00000413851.3:c.209A>G MANE Select | ENSP00000409000.2:p.Lys70Arg | |
| ENST00000413851.2:c.209A>G | ENSP00000409000.2:p.Lys70Arg | |
| ENST00000613087.4:c.221A>G | ENSP00000481633.1:p.Lys74Arg | |
| NM_172139.2:c.209A>G | NP_742151.2:p.Lys70Arg | |
| XM_005258765.3:c.221A>G | XP_005258822.1:p.Lys74Arg | |
| XM_011526757.1:c.221A>G | XP_011525059.1:p.Lys74Arg | |
| NM_001346937.1:c.221A>G | NP_001333866.1:p.Lys74Arg | |
| NM_172139.3:c.209A>G | NP_742151.2:p.Lys70Arg | |
| NM_172139.4:c.209A>G MANE Select | NP_742151.2:p.Lys70Arg | |
| NM_001346937.2:c.221A>G | NP_001333866.1:p.Lys74Arg |