Linked Data
ClinVar Variation Id:
473092
dbSNP Id:
rs144870163
ExAC:
14:102881115 C / T
gnomAD v2:
14-102881115-C-T
gnomAD v3:
14-102414778-C-T
gnomAD v4:
14-102414778-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102414778C>T , CM000676.2:g.102414778C>T | GRCh38 |
| NC_000014.8:g.102881115C>T , CM000676.1:g.102881115C>T | GRCh37 |
| NC_000014.7:g.101950868C>T | NCBI36 |
| NG_042851.1:g.56867C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359520.12:c.623C>T MANE Select | ENSP00000352510.7:p.Thr208Ile | |
| ENST00000359520.11:c.623C>T | ENSP00000352510.7:p.Thr208Ile | |
| ENST00000558678.1:c.623C>T | ENSP00000453671.1:p.Thr208Ile | |
| ENST00000561228.1:n.751C>T | ||
| NM_001172631.1:c.623C>T | NP_001166102.1:p.Thr208Ile | |
| NM_001172631.2:c.623C>T | NP_001166102.1:p.Thr208Ile | |
| NM_014844.3:c.623C>T | NP_055659.2:p.Thr208Ile | |
| NM_014844.4:c.623C>T | NP_055659.2:p.Thr208Ile | |
| XM_005268246.2:c.623C>T | XP_005268303.1:p.Thr208Ile | |
| XM_011537419.1:c.623C>T | XP_011535721.1:p.Thr208Ile | |
| NM_014844.5:c.623C>T MANE Select | NP_055659.2:p.Thr208Ile | |
| NM_001172631.3:c.623C>T | NP_001166102.1:p.Thr208Ile |