Linked Data
ClinVar Variation Id:
2970039
ClinVar RCV Id:
RCV003829693
dbSNP Id:
rs1488299383
gnomAD v2:
14-91739950-C-T
gnomAD v3:
14-91273606-C-T
gnomAD v4:
14-91273606-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91273606C>T , CM000676.2:g.91273606C>T | GRCh38 |
| NC_000014.8:g.91739950C>T , CM000676.1:g.91739950C>T | GRCh37 |
| NC_000014.7:g.90809703C>T | NCBI36 |
| NG_033118.1:g.149239G>A | |
| NG_033118.2:g.149239G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5106G>A MANE Select | ENSP00000374507.6:p.Lys1702= | |
| ENST00000331194.8:c.678G>A | ENSP00000330332.8:p.Lys226= | |
| ENST00000334448.5:n.918G>A | ||
| ENST00000389857.10:c.5106G>A | ENSP00000374507.6:p.Lys1702= | |
| ENST00000556726.5:c.1334G>A | ||
| NM_001080414.3:c.5106G>A | NP_001073883.2:p.Lys1702= | |
| XM_011536796.1:c.4998G>A | XP_011535098.1:p.Lys1666= | |
| XR_429316.2:n.5381G>A | ||
| XM_011536796.2:c.4998G>A | XP_011535098.1:p.Lys1666= | |
| XM_017021336.1:c.2187G>A | XP_016876825.1:p.Lys729= | |
| XR_429316.4:n.5379G>A | ||
| NM_001080414.4:c.5106G>A MANE Select | NP_001073883.2:p.Lys1702= |