Linked Data
ClinVar Variation Id:
2067617
ClinVar RCV Id:
RCV002954046
dbSNP Id:
rs183319966
ExAC:
14:91739895 C / T
gnomAD v2:
14-91739895-C-T
gnomAD v3:
14-91273551-C-T
gnomAD v4:
14-91273551-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91273551C>T , CM000676.2:g.91273551C>T | GRCh38 |
| NC_000014.8:g.91739895C>T , CM000676.1:g.91739895C>T | GRCh37 |
| NC_000014.7:g.90809648C>T | NCBI36 |
| NG_033118.1:g.149294G>A | |
| NG_033118.2:g.149294G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5161G>A MANE Select | ENSP00000374507.6:p.Gly1721Arg | |
| ENST00000331194.8:c.733G>A | ENSP00000330332.8:p.Gly245Arg | |
| ENST00000334448.5:n.973G>A | ||
| ENST00000389857.10:c.5161G>A | ENSP00000374507.6:p.Gly1721Arg | |
| ENST00000556726.5:c.1389G>A | ||
| NM_001080414.3:c.5161G>A | NP_001073883.2:p.Gly1721Arg | |
| XM_011536796.1:c.5053G>A | XP_011535098.1:p.Gly1685Arg | |
| XR_429316.2:n.5436G>A | ||
| XM_011536796.2:c.5053G>A | XP_011535098.1:p.Gly1685Arg | |
| XM_017021336.1:c.2242G>A | XP_016876825.1:p.Gly748Arg | |
| XR_429316.4:n.5434G>A | ||
| NM_001080414.4:c.5161G>A MANE Select | NP_001073883.2:p.Gly1721Arg |