Linked Data
ClinVar Variation Id:
2911757
ClinVar RCV Id:
RCV003612306
gnomAD v4:
14-50591006-T-C
MyVariant Identifiers:
chr14:g.51057724T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50591006T>C , CM000676.2:g.50591006T>C | GRCh38 |
| NC_000014.8:g.51057724T>C , CM000676.1:g.51057724T>C | GRCh37 |
| NC_000014.7:g.50127474T>C | NCBI36 |
| NG_009028.1:g.62925T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553509.2:c.348T>C | ENSP00000450989.2:p.Ser116= | |
| ENST00000553746.2:n.2306T>C | ||
| ENST00000556478.3:c.348T>C | ENSP00000501428.2:p.Ser116= | |
| ENST00000682037.1:c.348T>C | ENSP00000508289.1:p.Ser116= | |
| ENST00000682219.1:n.1227T>C | ||
| ENST00000682226.1:n.682T>C | ||
| ENST00000682487.1:n.682T>C | ||
| ENST00000683330.1:n.682T>C | ||
| ENST00000683703.1:n.682T>C | ||
| ENST00000683837.1:n.682T>C | ||
| ENST00000684737.1:n.682T>C | ||
| ENST00000358385.12:c.348T>C MANE Select | ENSP00000351155.7:p.Ser116= | |
| ENST00000674288.1:c.*1640T>C | ENSP00000501522.1:n.*1640T>C | |
| ENST00000674478.1:n.682T>C | ||
| ENST00000358385.10:c.348T>C | ENSP00000351155.6:p.Ser116= | |
| ENST00000441560.6:c.348T>C | ENSP00000413675.2:p.Ser116= | |
| ENST00000553746.1:n.18T>C | ||
| ENST00000554886.1:c.-85T>C | ENSP00000452074.1:n.-85T>C | |
| ENST00000557735.1:c.99T>C | ENSP00000451015.1:p.Ser33= | |
| NM_001127713.1:c.348T>C | NP_001121185.1:p.Ser116= | |
| NM_015915.4:c.348T>C | NP_056999.2:p.Ser116= | |
| NM_181598.3:c.348T>C | NP_853629.2:p.Ser116= | |
| NM_015915.5:c.348T>C MANE Select | NP_056999.2:p.Ser116= | |
| NM_181598.4:c.348T>C | NP_853629.2:p.Ser116= |