Linked Data
ClinVar Variation Id:
92164
ClinVar RCV Id:
RCV000077798
dbSNP Id:
rs145518263
ExAC:
15:58957340 T / C
gnomAD v2:
15-58957340-T-C
gnomAD v3:
15-58665141-T-C
gnomAD v4:
15-58665141-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58665141T>C , CM000677.2:g.58665141T>C | GRCh38 |
| NC_000015.9:g.58957340T>C , CM000677.1:g.58957340T>C | GRCh37 |
| NC_000015.8:g.56744632T>C | NCBI36 |
| NG_033876.1:g.89838A>G | |
| NG_033876.2:g.89567A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260408.8:c.541A>G MANE Select | ENSP00000260408.3:p.Arg181Gly | |
| ENST00000260408.7:c.541A>G | ENSP00000260408.3:p.Arg181Gly | |
| ENST00000396136.6:c.367A>G | ||
| ENST00000402627.5:c.56-24311A>G | ENSP00000386056.1:n.56-24311A>G | |
| ENST00000558733.5:n.777A>G | ||
| ENST00000559053.1:c.56-24311A>G | ENSP00000453952.1:n.56-24311A>G | |
| ENST00000561288.1:c.56-67623A>G | ENSP00000452639.1:n.56-67623A>G | |
| NM_001110.3:c.541A>G | NP_001101.1:p.Arg181Gly | |
| XM_005254117.2:c.541A>G | XP_005254174.1:p.Arg181Gly | |
| NM_001320570.1:c.541A>G | NP_001307499.1:p.Arg181Gly | |
| XM_024449818.1:c.319A>G | XP_024305586.1:p.Arg107Gly | |
| NM_001110.4:c.541A>G MANE Select | NP_001101.1:p.Arg181Gly | |
| NM_001320570.2:c.541A>G | NP_001307499.1:p.Arg181Gly |