Linked Data
ClinVar Variation Id:
313114
ClinVar RCV Id:
RCV000290909
dbSNP Id:
rs377380656
ExAC:
14:35872524 C / T
gnomAD v2:
14-35872524-C-T
gnomAD v3:
14-35403318-C-T
gnomAD v4:
14-35403318-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35403318C>T , CM000676.2:g.35403318C>T | GRCh38 |
| NC_000014.8:g.35872524C>T , CM000676.1:g.35872524C>T | GRCh37 |
| NC_000014.7:g.34942275C>T | NCBI36 |
| NG_007571.1:g.6421G>A , LRG_89:g.6421G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553342.2:c.307G>A | ENSP00000451281.2:p.Ala103Thr | |
| ENST00000557459.2:n.477G>A | ||
| ENST00000697954.1:n.191G>A | ||
| ENST00000697955.1:n.337G>A | ||
| ENST00000697956.1:n.258G>A | ||
| ENST00000697957.1:n.484G>A | ||
| ENST00000697958.1:n.806G>A | ||
| ENST00000697959.1:n.484G>A | ||
| ENST00000697960.1:n.793G>A | ||
| ENST00000697961.1:c.379G>A | ENSP00000513487.1:p.Ala127Thr | |
| ENST00000697962.1:c.109G>A | ENSP00000513488.1:p.Ala37Thr | |
| ENST00000697966.1:n.397G>A | ||
| ENST00000216797.10:c.379G>A MANE Select | ENSP00000216797.6:p.Ala127Thr | |
| ENST00000216797.9:c.379G>A | ENSP00000216797.5:p.Ala127Thr | |
| ENST00000554001.5:c.*21G>A | ENSP00000450537.1:n.*21G>A | |
| ENST00000556664.1:n.113G>A | ||
| ENST00000557100.5:n.435G>A | ||
| ENST00000557140.5:c.379G>A | ENSP00000451257.1:p.Ala127Thr | |
| ENST00000557389.1:c.109G>A | ENSP00000450514.1:p.Ala37Thr | |
| ENST00000557459.1:n.477G>A | ||
| NM_020529.2:c.379G>A , LRG_89t1:c.379G>A | NP_065390.1:p.Ala127Thr | |
| NM_020529.3:c.379G>A MANE Select | NP_065390.1:p.Ala127Thr |