Linked Data
ClinVar Variation Id:
13343
ClinVar RCV Id:
RCV000033531
RCV000055883
RCV000077850
RCV000824746
RCV001281363
RCV001813203
RCV002390105
RCV004532346
dbSNP Id:
rs121918469
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112488454G>C , CM000674.2:g.112488454G>C | GRCh38 |
| NC_000012.11:g.112926258G>C , CM000674.1:g.112926258G>C | GRCh37 |
| NC_000012.10:g.111410641G>C | NCBI36 |
| NG_007459.1:g.74723G>C , LRG_614:g.74723G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1391G>C | ENSP00000491593.2:p.Gly464Ala | |
| ENST00000685487.1:c.1391G>C | ENSP00000508503.1:p.Gly464Ala | |
| ENST00000687624.1:n.56G>C | ||
| ENST00000687906.1:c.1277G>C | ENSP00000509536.1:p.Gly426Ala | |
| ENST00000688597.1:c.1224+6249G>C | ENSP00000510628.1:n.1224+6249G>C | |
| ENST00000688701.1:n.635G>C | ||
| ENST00000690210.1:c.1391G>C | ENSP00000509272.1:p.Gly464Ala | |
| ENST00000690472.1:n.600G>C | ||
| ENST00000692624.1:c.1380-570G>C | ENSP00000508953.1:n.1380-570G>C | |
| ENST00000351677.7:c.1391G>C MANE Select | ENSP00000340944.3:p.Gly464Ala | |
| ENST00000351677.6:c.1391G>C | ENSP00000340944.2:p.Gly464Ala | |
| ENST00000635625.1:c.1403G>C | ENSP00000489597.1:p.Gly468Ala | |
| ENST00000635652.1:c.404G>C | ENSP00000489541.1:p.Gly135Ala | |
| NM_002834.3:c.1391G>C , LRG_614t1:c.1391G>C | NP_002825.3:p.Gly464Ala | |
| XM_006719526.1:c.1403G>C | XP_006719589.1:p.Gly468Ala | |
| XM_006719527.1:c.1289G>C | XP_006719590.1:p.Gly430Ala | |
| XM_011538613.1:c.1400G>C | XP_011536915.1:p.Gly467Ala | |
| NM_001330437.1:c.1403G>C | NP_001317366.1:p.Gly468Ala | |
| NM_002834.4:c.1391G>C | NP_002825.3:p.Gly464Ala | |
| XM_011538613.2:c.1400G>C | XP_011536915.1:p.Gly467Ala | |
| XM_017019722.1:c.1388G>C | XP_016875211.1:p.Gly463Ala | |
| NM_001330437.2:c.1403G>C | NP_001317366.1:p.Gly468Ala | |
| NM_001374625.1:c.1388G>C | NP_001361554.1:p.Gly463Ala | |
| NM_002834.5:c.1391G>C MANE Select | NP_002825.3:p.Gly464Ala |