Linked Data
ClinVar Variation Id:
4330
ClinVar RCV Id:
RCV002281694
dbSNP Id:
rs121908312
gnomAD v4:
1-155239716-C-G
PubMed:
PMID:12476451
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155239716C>G , CM000663.2:g.155239716C>G | GRCh38 |
| NC_000001.10:g.155209507C>G , CM000663.1:g.155209507C>G | GRCh37 |
| NC_000001.9:g.153476131C>G | NCBI36 |
| NG_009783.1:g.9982G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368373.8:c.354G>C MANE Select | ENSP00000357357.3:p.Lys118Asn | |
| ENST00000327247.9:c.354G>C | ENSP00000314508.5:p.Lys118Asn | |
| ENST00000368373.7:c.354G>C | ENSP00000357357.3:p.Lys118Asn | |
| ENST00000427500.7:c.307+170G>C | ENSP00000402577.2:n.307+170G>C | |
| ENST00000428024.3:c.93G>C | ENSP00000397986.2:p.Lys31Asn | |
| ENST00000467918.5:n.544G>C | ||
| ENST00000473570.5:n.675G>C | ||
| ENST00000484489.5:n.339+257G>C | ||
| ENST00000493842.5:n.692G>C | ||
| ENST00000497670.5:n.77+170G>C | ||
| NM_000157.3:c.354G>C | NP_000148.2:p.Lys118Asn | |
| NM_001005741.2:c.354G>C | NP_001005741.1:p.Lys118Asn | |
| NM_001005742.2:c.354G>C | NP_001005742.1:p.Lys118Asn | |
| NM_001171811.1:c.93G>C | NP_001165282.1:p.Lys31Asn | |
| NM_001171812.1:c.307+170G>C | NP_001165283.1:n.307+170G>C | |
| XM_006711270.1:c.354G>C | XP_006711333.1:p.Lys118Asn | |
| XM_011509407.1:c.354G>C | XP_011507709.1:p.Lys118Asn | |
| NM_000157.4:c.354G>C MANE Select | NP_000148.2:p.Lys118Asn | |
| NM_001005741.3:c.354G>C | NP_001005741.1:p.Lys118Asn | |
| NM_001005742.3:c.354G>C | NP_001005742.1:p.Lys118Asn | |
| NM_001171811.2:c.93G>C | NP_001165282.1:p.Lys31Asn | |
| NM_001171812.2:c.307+170G>C | NP_001165283.1:n.307+170G>C |