Linked Data
ClinVar Variation Id:
356473
dbSNP Id:
rs754040672
ExAC:
6:35479520 T / C
gnomAD v2:
6-35479520-T-C
gnomAD v3:
6-35511743-T-C
gnomAD v4:
6-35511743-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35511743T>C , CM000668.2:g.35511743T>C | GRCh38 |
| NC_000006.11:g.35479520T>C , CM000668.1:g.35479520T>C | GRCh37 |
| NC_000006.10:g.35587498T>C | NCBI36 |
| NG_009077.1:g.6128A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.254A>G MANE Select | ENSP00000229771.6:p.Gln85Arg | |
| ENST00000229771.10:c.254A>G | ENSP00000229771.6:p.Gln85Arg | |
| ENST00000322263.8:c.190+437A>G | ENSP00000319414.4:n.190+437A>G | |
| ENST00000373892.4:n.225A>G | ||
| ENST00000428978.1:c.190+437A>G | ENSP00000406765.1:n.190+437A>G | |
| ENST00000448446.2:n.159A>G | ||
| ENST00000614066.4:c.254A>G | ENSP00000477534.1:p.Gln85Arg | |
| NM_001289395.1:c.190+437A>G | NP_001276324.1:n.190+437A>G | |
| NM_003322.4:c.254A>G | NP_003313.3:p.Gln85Arg | |
| NM_003322.5:c.254A>G | NP_003313.3:p.Gln85Arg | |
| NM_003322.6:c.254A>G MANE Select | NP_003313.3:p.Gln85Arg | |
| NM_001289395.2:c.190+437A>G | NP_001276324.1:n.190+437A>G |