Linked Data
ClinVar Variation Id:
2187625
ClinVar RCV Id:
RCV002615903
dbSNP Id:
rs756746825
ExAC:
6:42689493 C / G
gnomAD v2:
6-42689493-C-G
gnomAD v3:
6-42721755-C-G
gnomAD v4:
6-42721755-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721755C>G , CM000668.2:g.42721755C>G | GRCh38 |
| NC_000006.11:g.42689493C>G , CM000668.1:g.42689493C>G | GRCh37 |
| NC_000006.10:g.42797471C>G | NCBI36 |
| NG_009176.1:g.5866G>C | |
| NG_009176.2:g.5866G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.580G>C MANE Select | ENSP00000230381.5:p.Asp194His | |
| ENST00000230381.6:c.580G>C | ENSP00000230381.5:p.Asp194His | |
| NM_000322.4:c.580G>C | NP_000313.2:p.Asp194His | |
| XR_427834.2:n.1235G>C | ||
| XR_926295.1:n.1235G>C | ||
| XR_427834.4:n.1285G>C | ||
| XR_926295.3:n.1285G>C | ||
| NM_000322.5:c.580G>C MANE Select | NP_000313.2:p.Asp194His |