Linked Data
ClinVar Variation Id:
313390
dbSNP Id:
rs886050549
gnomAD v3:
14-54844155-G-A
gnomAD v4:
14-54844155-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54844155G>A , CM000676.2:g.54844155G>A | GRCh38 |
| NC_000014.8:g.55310873G>A , CM000676.1:g.55310873G>A | GRCh37 |
| NC_000014.7:g.54380623G>A | NCBI36 |
| NG_008647.1:g.63670C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000491895.7:c.627-12C>T MANE Select | ENSP00000419045.2:n.627-12C>T | |
| ENST00000254299.8:n.775-12C>T | ||
| ENST00000395514.5:c.627-12C>T | ENSP00000378890.1:n.627-12C>T | |
| ENST00000395521.6:n.293-1101C>T | ||
| ENST00000491895.6:c.627-12C>T | ENSP00000419045.2:n.627-12C>T | |
| ENST00000536224.2:c.627-1101C>T | ENSP00000445246.2:n.627-1101C>T | |
| ENST00000543643.6:c.627-286C>T | ENSP00000444011.2:n.627-286C>T | |
| ENST00000622544.4:c.627-12C>T | ENSP00000477796.1:n.627-12C>T | |
| NM_000161.2:c.627-12C>T | NP_000152.1:n.627-12C>T | |
| NM_001024024.1:c.627-12C>T | NP_001019195.1:n.627-12C>T | |
| NM_001024070.1:c.627-286C>T | NP_001019241.1:n.627-286C>T | |
| NM_001024071.1:c.627-1101C>T | NP_001019242.1:n.627-1101C>T | |
| XM_005267530.1:c.627-286C>T | XP_005267587.1:n.627-286C>T | |
| XM_017021218.1:c.333-12C>T | XP_016876707.1:n.333-12C>T | |
| NM_000161.3:c.627-12C>T MANE Select | NP_000152.1:n.627-12C>T | |
| NM_001024070.2:c.627-286C>T | NP_001019241.1:n.627-286C>T | |
| NM_001024071.2:c.627-1101C>T | NP_001019242.1:n.627-1101C>T | |
| NM_001024024.2:c.627-12C>T | NP_001019195.1:n.627-12C>T |