Linked Data
ClinVar Variation Id:
3059696
ClinVar RCV Id:
RCV003974667
dbSNP Id:
rs1802710
ExAC:
14:101200645 T / C
gnomAD v2:
14-101200645-T-C
gnomAD v3:
14-100734308-T-C
gnomAD v4:
14-100734308-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100734308T>C , CM000676.2:g.100734308T>C | GRCh38 |
| NC_000014.8:g.101200645T>C , CM000676.1:g.101200645T>C | GRCh37 |
| NC_000014.7:g.100270398T>C | NCBI36 |
| NG_016863.2:g.12444T>C | |
| NG_016863.3:g.12444T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341267.9:c.564T>C MANE Select | ENSP00000340292.4:p.Ile188= | |
| ENST00000331224.10:c.564T>C | ENSP00000331081.6:p.Ile188= | |
| ENST00000341267.8:c.564T>C | ENSP00000340292.4:p.Ile188= | |
| NM_003836.5:c.564T>C | NP_003827.3:p.Ile188= | |
| NM_001317172.1:c.564T>C | NP_001304101.1:p.Ile188= | |
| NM_003836.6:c.564T>C | NP_003827.3:p.Ile188= | |
| NM_001317172.2:c.564T>C | NP_001304101.2:p.Ile188= | |
| NM_003836.7:c.564T>C MANE Select | NP_003827.4:p.Ile188= |