Linked Data
ClinVar Variation Id:
2933136
ClinVar RCV Id:
RCV003790254
dbSNP Id:
rs747393714
ExAC:
14:55369148 G / A
gnomAD v2:
14-55369148-G-A
gnomAD v3:
14-54902430-G-A
gnomAD v4:
14-54902430-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54902430G>A , CM000676.2:g.54902430G>A | GRCh38 |
| NC_000014.8:g.55369148G>A , CM000676.1:g.55369148G>A | GRCh37 |
| NC_000014.7:g.54438898G>A | NCBI36 |
| NG_008647.1:g.5395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491895.7:c.234C>T MANE Select | ENSP00000419045.2:p.Ile78= | |
| ENST00000254299.8:n.382C>T | ||
| ENST00000395514.5:c.234C>T | ENSP00000378890.1:p.Ile78= | |
| ENST00000395521.6:n.17C>T | ||
| ENST00000491895.6:c.234C>T | ENSP00000419045.2:p.Ile78= | |
| ENST00000536224.2:c.234C>T | ENSP00000445246.2:p.Ile78= | |
| ENST00000543643.6:c.234C>T | ENSP00000444011.2:p.Ile78= | |
| ENST00000622544.4:c.234C>T | ENSP00000477796.1:p.Ile78= | |
| NM_000161.2:c.234C>T | NP_000152.1:p.Ile78= | |
| NM_001024024.1:c.234C>T | NP_001019195.1:p.Ile78= | |
| NM_001024070.1:c.234C>T | NP_001019241.1:p.Ile78= | |
| NM_001024071.1:c.234C>T | NP_001019242.1:p.Ile78= | |
| XM_005267530.1:c.234C>T | XP_005267587.1:p.Ile78= | |
| XM_011536643.1:c.234C>T | XP_011534945.1:p.Ile78= | |
| NM_000161.3:c.234C>T MANE Select | NP_000152.1:p.Ile78= | |
| NM_001024070.2:c.234C>T | NP_001019241.1:p.Ile78= | |
| NM_001024071.2:c.234C>T | NP_001019242.1:p.Ile78= | |
| NM_001024024.2:c.234C>T | NP_001019195.1:p.Ile78= |