Linked Data
ClinVar Variation Id:
2582932
ClinVar RCV Id:
RCV003334175
dbSNP Id:
rs989269379
gnomAD v2:
15-45694937-T-C
gnomAD v3:
15-45402739-T-C
gnomAD v4:
15-45402739-T-C
MyVariant Identifiers:
chr15:g.45694937T>C (hg19)
chr15:g.45694937_45694938delinsCG (hg19)
chr15:g.45402739T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45402739T>C , CM000677.2:g.45402739T>C | GRCh38 |
| NC_000015.9:g.45694937T>C , CM000677.1:g.45694937T>C | GRCh37 |
| NC_000015.8:g.43482229T>C | NCBI36 |
| NG_011674.2:g.4579A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305560.11:c.310T>C MANE Select | ENSP00000305494.6:p.Cys104Arg | |
| ENST00000305560.10:c.310T>C | ENSP00000305494.6:p.Cys104Arg | |
| ENST00000531970.5:c.310T>C | ENSP00000436823.1:p.Cys104Arg | |
| ENST00000559860.2:n.370T>C | ||
| NM_024063.2:c.310T>C | NP_076968.2:p.Cys104Arg | |
| NR_027635.1:n.419T>C | ||
| XM_005254657.3:c.310T>C | XP_005254714.1:p.Cys104Arg | |
| XR_243126.3:n.467T>C | ||
| NM_001323640.1:c.310T>C | NP_001310569.1:p.Cys104Arg | |
| NR_136645.1:n.419T>C | ||
| NR_136646.1:n.419T>C | ||
| NR_136647.1:n.419T>C | ||
| NR_136648.1:n.419T>C | ||
| XR_001751383.2:n.352T>C | ||
| NM_024063.3:c.310T>C MANE Select | NP_076968.2:p.Cys104Arg | |
| NR_027635.2:n.404T>C | ||
| NR_136645.2:n.404T>C | ||
| NR_136646.2:n.404T>C | ||
| NR_136647.2:n.404T>C | ||
| NR_136648.2:n.404T>C | ||
| NM_001323640.2:c.310T>C | NP_001310569.1:p.Cys104Arg |