Linked Data
ClinVar Variation Id:
161248
dbSNP Id:
rs200891969
ExAC:
14:55312502 C / T
gnomAD v2:
14-55312502-C-T
gnomAD v3:
14-54845784-C-T
gnomAD v4:
14-54845784-C-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54845784C>T , CM000676.2:g.54845784C>T | GRCh38 |
| NC_000014.8:g.55312502C>T , CM000676.1:g.55312502C>T | GRCh37 |
| NC_000014.7:g.54382252C>T | NCBI36 |
| NG_008647.1:g.62041G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000491895.7:c.610G>A MANE Select | ENSP00000419045.2:p.Val204Ile | |
| ENST00000254299.8:n.758G>A | ||
| ENST00000395514.5:c.610G>A | ENSP00000378890.1:p.Val204Ile | |
| ENST00000395521.6:n.293-2730G>A | ||
| ENST00000491895.6:c.610G>A | ENSP00000419045.2:p.Val204Ile | |
| ENST00000536224.2:c.610G>A | ENSP00000445246.2:p.Val204Ile | |
| ENST00000543643.6:c.610G>A | ENSP00000444011.2:p.Val204Ile | |
| ENST00000622544.4:c.610G>A | ENSP00000477796.1:p.Val204Ile | |
| NM_000161.2:c.610G>A | NP_000152.1:p.Val204Ile | |
| NM_001024024.1:c.610G>A | NP_001019195.1:p.Val204Ile | |
| NM_001024070.1:c.610G>A | NP_001019241.1:p.Val204Ile | |
| NM_001024071.1:c.610G>A | NP_001019242.1:p.Val204Ile | |
| XM_005267530.1:c.610G>A | XP_005267587.1:p.Val204Ile | |
| XM_017021218.1:c.316G>A | XP_016876707.1:p.Val106Ile | |
| NM_000161.3:c.610G>A MANE Select | NP_000152.1:p.Val204Ile | |
| NM_001024070.2:c.610G>A | NP_001019241.1:p.Val204Ile | |
| NM_001024071.2:c.610G>A | NP_001019242.1:p.Val204Ile | |
| NM_001024024.2:c.610G>A | NP_001019195.1:p.Val204Ile |