Linked Data
ClinVar Variation Id:
790859
ClinVar RCV Id:
RCV000973720
dbSNP Id:
rs367905673
ExAC:
14:91739013 C / T
gnomAD v2:
14-91739013-C-T
gnomAD v3:
14-91272669-C-T
gnomAD v4:
14-91272669-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272669C>T , CM000676.2:g.91272669C>T | GRCh38 |
| NC_000014.8:g.91739013C>T , CM000676.1:g.91739013C>T | GRCh37 |
| NC_000014.7:g.90808766C>T | NCBI36 |
| NG_033118.1:g.150176G>A | |
| NG_033118.2:g.150176G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.6043G>A MANE Select | ENSP00000374507.6:p.Gly2015Ser | |
| ENST00000331194.8:c.1477G>A | ENSP00000330332.8:p.Gly493Ser | |
| ENST00000389857.10:c.6043G>A | ENSP00000374507.6:p.Gly2015Ser | |
| ENST00000556726.5:c.2271G>A | ||
| NM_001080414.3:c.6043G>A | NP_001073883.2:p.Gly2015Ser | |
| XM_011536796.1:c.5935G>A | XP_011535098.1:p.Gly1979Ser | |
| XM_011536796.2:c.5935G>A | XP_011535098.1:p.Gly1979Ser | |
| XM_017021336.1:c.3124G>A | XP_016876825.1:p.Gly1042Ser | |
| NM_001080414.4:c.6043G>A MANE Select | NP_001073883.2:p.Gly2015Ser |