Linked Data
ClinVar Variation Id:
93463
dbSNP Id:
rs149667250
ExAC:
2:20133254 C / A
gnomAD v2:
2-20133254-C-A
gnomAD v3:
2-19933493-C-A
gnomAD v4:
2-19933493-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19933493C>A , CM000664.2:g.19933493C>A | GRCh38 |
| NC_000002.11:g.20133254C>A , CM000664.1:g.20133254C>A | GRCh37 |
| NC_000002.10:g.19996735C>A | NCBI36 |
| NG_021212.1:g.61631G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.2566G>T MANE Select | ENSP00000281405.5:p.Val856Phe | |
| ENST00000345530.8:c.2599G>T MANE Plus Clinical | ENSP00000314444.5:p.Val867Phe | |
| ENST00000281405.8:c.2566G>T | ENSP00000281405.4:p.Val856Phe | |
| ENST00000345530.7:c.2599G>T | ENSP00000314444.5:p.Val867Phe | |
| ENST00000414212.5:c.2603G>T | ENSP00000390802.1:p.Cys868Phe | |
| ENST00000445063.5:c.2023+1978G>T | ||
| NM_001006657.1:c.2599G>T | NP_001006658.1:p.Val867Phe | |
| NM_020779.3:c.2566G>T | NP_065830.2:p.Val856Phe | |
| XM_011533007.1:c.1294G>T | XP_011531309.1:p.Val432Phe | |
| XR_426989.2:n.2599G>T | ||
| XM_011533007.2:c.1294G>T | XP_011531309.1:p.Val432Phe | |
| XR_001738862.1:n.2543G>T | ||
| XR_426989.3:n.2599G>T | ||
| NM_001006657.2:c.2599G>T MANE Plus Clinical | NP_001006658.1:p.Val867Phe | |
| NM_020779.4:c.2566G>T MANE Select | NP_065830.2:p.Val856Phe |