Linked Data
ClinVar Variation Id:
94017
dbSNP Id:
rs398123676
ExAC:
1:100680373 C / G
gnomAD v2:
1-100680373-C-G
gnomAD v4:
1-100214817-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100214817C>G , CM000663.2:g.100214817C>G | GRCh38 |
| NC_000001.10:g.100680373C>G , CM000663.1:g.100680373C>G | GRCh37 |
| NC_000001.9:g.100452961C>G | NCBI36 |
| NG_011852.2:g.40037G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681617.1:c.939G>C | ENSP00000505544.1:p.Lys313Asn | |
| ENST00000681780.1:c.396G>C | ENSP00000505780.1:p.Lys132Asn | |
| ENST00000370131.3:c.939G>C | ENSP00000359150.3:p.Lys313Asn | |
| ENST00000370132.8:c.939G>C MANE Select | ENSP00000359151.3:p.Lys313Asn | |
| NM_001918.3:c.939G>C | NP_001909.3:p.Lys313Asn | |
| XM_005270545.2:c.396G>C | XP_005270602.1:p.Lys132Asn | |
| XM_005270546.2:c.396G>C | XP_005270603.1:p.Lys132Asn | |
| XR_946560.1:n.959G>C | ||
| XM_005270545.4:c.396G>C | XP_005270602.1:p.Lys132Asn | |
| XM_017000468.2:c.396G>C | XP_016855957.1:p.Lys132Asn | |
| XM_017000469.2:c.396G>C | XP_016855958.1:p.Lys132Asn | |
| XR_946560.3:n.956G>C | ||
| NM_001918.4:c.939G>C | NP_001909.3:p.Lys313Asn | |
| NM_001918.5:c.939G>C MANE Select | NP_001909.4:p.Lys313Asn | |
| NM_001399969.1:c.396G>C | NP_001386898.1:p.Lys132Asn | |
| NM_001399972.1:c.396G>C | NP_001386901.1:p.Lys132Asn | |
| NR_174363.1:n.771G>C | ||
| NR_174364.1:n.953G>C | ||
| NR_174365.1:n.736G>C | ||
| NR_174366.1:n.953G>C |