Linked Data
ClinVar Variation Id:
2744922
ClinVar RCV Id:
RCV003565845
dbSNP Id:
rs142122217
ExAC:
14:81609317 T / C
gnomAD v2:
14-81609317-T-C
gnomAD v4:
14-81142973-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.81142973T>C , CM000676.2:g.81142973T>C | GRCh38 |
| NC_000014.8:g.81609317T>C , CM000676.1:g.81609317T>C | GRCh37 |
| NC_000014.7:g.80679070T>C | NCBI36 |
| NG_009206.1:g.192449T>C , LRG_523:g.192449T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298171.7:c.915T>C MANE Select | ENSP00000298171.2:p.Ser305= | |
| ENST00000636454.1:n.833T>C | ||
| ENST00000298171.6:c.915T>C | ENSP00000298171.2:p.Ser305= | |
| ENST00000541158.6:c.915T>C | ENSP00000441235.2:p.Ser305= | |
| NM_000369.2:c.915T>C , LRG_523t1:c.915T>C | NP_000360.2:p.Ser305= | |
| XM_005268037.3:c.915T>C | XP_005268094.1:p.Ser305= | |
| XM_011537119.1:c.636T>C | XP_011535421.1:p.Ser212= | |
| XR_245790.3:n.2086+22220A>G | ||
| XR_429385.2:n.853+22220A>G | ||
| XR_429386.2:n.854+22220A>G | ||
| XR_944075.1:n.865+22220A>G | ||
| XR_944076.1:n.861+22220A>G | ||
| XR_944077.1:n.865+22220A>G | ||
| XR_944078.1:n.865+22220A>G | ||
| XR_944079.1:n.855+22220A>G | ||
| XM_005268037.4:c.915T>C | XP_005268094.1:p.Ser305= | |
| XM_011537119.2:c.636T>C | XP_011535421.1:p.Ser212= | |
| XR_001751021.1:n.2753+22220A>G | ||
| XR_001751022.1:n.2753+22220A>G | ||
| XR_001751023.1:n.2753+22220A>G | ||
| XR_944075.3:n.929+22220A>G | ||
| NM_000369.4:c.915T>C | NP_000360.2:p.Ser305= | |
| NM_000369.5:c.915T>C MANE Select | NP_000360.2:p.Ser305= |