Linked Data
ClinVar Variation Id:
9283
dbSNP Id:
rs41298442
ExAC:
14:55310817 T / C
gnomAD v2:
14-55310817-T-C
gnomAD v3:
14-54844099-T-C
gnomAD v4:
14-54844099-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54844099T>C , CM000676.2:g.54844099T>C | GRCh38 |
| NC_000014.8:g.55310817T>C , CM000676.1:g.55310817T>C | GRCh37 |
| NC_000014.7:g.54380567T>C | NCBI36 |
| NG_008647.1:g.63726A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000491895.7:c.671A>G MANE Select | ENSP00000419045.2:p.Lys224Arg | |
| ENST00000254299.8:n.819A>G | ||
| ENST00000395514.5:c.671A>G | ENSP00000378890.1:p.Lys224Arg | |
| ENST00000395521.6:n.293-1045A>G | ||
| ENST00000491895.6:c.671A>G | ENSP00000419045.2:p.Lys224Arg | |
| ENST00000536224.2:c.627-1045A>G | ENSP00000445246.2:n.627-1045A>G | |
| ENST00000543643.6:c.627-230A>G | ENSP00000444011.2:n.627-230A>G | |
| ENST00000622544.4:c.671A>G | ENSP00000477796.1:p.Lys224Arg | |
| NM_000161.2:c.671A>G | NP_000152.1:p.Lys224Arg | |
| NM_001024024.1:c.671A>G | NP_001019195.1:p.Lys224Arg | |
| NM_001024070.1:c.627-230A>G | NP_001019241.1:n.627-230A>G | |
| NM_001024071.1:c.627-1045A>G | NP_001019242.1:n.627-1045A>G | |
| XM_005267530.1:c.627-230A>G | XP_005267587.1:n.627-230A>G | |
| XM_017021218.1:c.377A>G | XP_016876707.1:p.Lys126Arg | |
| NM_000161.3:c.671A>G MANE Select | NP_000152.1:p.Lys224Arg | |
| NM_001024070.2:c.627-230A>G | NP_001019241.1:n.627-230A>G | |
| NM_001024071.2:c.627-1045A>G | NP_001019242.1:n.627-1045A>G | |
| NM_001024024.2:c.671A>G | NP_001019195.1:p.Lys224Arg |