Linked Data
ClinVar Variation Id:
2394103
ClinVar RCV Id:
RCV004232601
dbSNP Id:
rs780580704
ExAC:
2:158178066 T / C
gnomAD v2:
2-158178066-T-C
gnomAD v3:
2-157321554-T-C
gnomAD v4:
2-157321554-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.157321554T>C , CM000664.2:g.157321554T>C | GRCh38 |
| NC_000002.11:g.158178066T>C , CM000664.1:g.158178066T>C | GRCh37 |
| NC_000002.10:g.157886312T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410096.6:c.572A>G MANE Select | ENSP00000387047.1:p.Asp191Gly | |
| ENST00000397283.6:c.611A>G | ENSP00000380453.2:p.Asp204Gly | |
| ENST00000409395.3:c.*423A>G | ENSP00000387339.3:n.*423A>G | |
| ENST00000410096.5:c.572A>G | ENSP00000387047.1:p.Asp191Gly | |
| ENST00000420719.6:c.512A>G | ENSP00000410646.2:p.Asp171Gly | |
| NM_001009959.2:c.611A>G | NP_001009959.1:p.Asp204Gly | |
| NM_001304344.1:c.572A>G | NP_001291273.1:p.Asp191Gly | |
| NM_001304345.1:c.572A>G | NP_001291274.1:p.Asp191Gly | |
| NM_001304346.1:c.512A>G | NP_001291275.1:p.Asp171Gly | |
| NM_020711.2:c.572A>G | NP_065762.1:p.Asp191Gly | |
| NM_001009959.3:c.611A>G | NP_001009959.1:p.Asp204Gly | |
| NM_001304346.2:c.512A>G | NP_001291275.1:p.Asp171Gly | |
| NM_020711.3:c.572A>G MANE Select | NP_065762.1:p.Asp191Gly | |
| NM_001304344.2:c.572A>G | NP_001291273.1:p.Asp191Gly | |
| NM_001304345.2:c.572A>G | NP_001291274.1:p.Asp191Gly |