Linked Data
ClinVar Variation Id:
501245
dbSNP Id:
rs150532013
ExAC:
1:215847910 T / C
gnomAD v2:
1-215847910-T-C
gnomAD v3:
1-215674568-T-C
gnomAD v4:
1-215674568-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215674568T>C , CM000663.2:g.215674568T>C | GRCh38 |
| NC_000001.10:g.215847910T>C , CM000663.1:g.215847910T>C | GRCh37 |
| NC_000001.9:g.213914533T>C | NCBI36 |
| NG_009497.1:g.753829A>G | |
| NG_009497.2:g.753881A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.13343A>G MANE Select | ENSP00000305941.3:p.Asp4448Gly | |
| ENST00000674083.1:c.13343A>G | ENSP00000501296.1:p.Asp4448Gly | |
| ENST00000307340.7:c.13343A>G | ENSP00000305941.3:p.Asp4448Gly | |
| NM_206933.2:c.13343A>G | NP_996816.2:p.Asp4448Gly | |
| NM_206933.3:c.13343A>G | NP_996816.2:p.Asp4448Gly | |
| NM_206933.4:c.13343A>G MANE Select | NP_996816.3:p.Asp4448Gly |