Linked Data
ClinVar Variation Id:
2231207
ClinVar RCV Id:
RCV004091753
dbSNP Id:
rs2047983837
gnomAD v3:
17-18245155-A-G
gnomAD v4:
17-18245155-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18245155A>G , CM000679.2:g.18245155A>G | GRCh38 |
| NC_000017.10:g.18148469A>G , CM000679.1:g.18148469A>G | GRCh37 |
| NC_000017.9:g.18089194A>G | NCBI36 |
| NG_023243.1:g.18587T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327031.9:c.3793T>C MANE Select | ENSP00000324573.4:p.Cys1265Arg | |
| ENST00000327031.8:c.3793T>C | ENSP00000324573.4:p.Cys1265Arg | |
| ENST00000545457.6:c.3628T>C | ENSP00000438536.2:p.Cys1210Arg | |
| ENST00000577398.6:c.607T>C | ENSP00000468045.1:p.Cys203Arg | |
| ENST00000578101.5:c.*3744T>C | ENSP00000462293.1:n.*3744T>C | |
| ENST00000578558.5:c.2022T>C | ENSP00000462314.1:p.Ser674= | |
| ENST00000579294.5:c.3760T>C | ENSP00000463534.1:p.Cys1254Arg | |
| ENST00000581858.5:c.325T>C | ||
| NM_001256264.1:c.3760T>C | NP_001243193.1:p.Cys1254Arg | |
| NM_001256265.1:c.3628T>C | NP_001243194.1:p.Cys1210Arg | |
| NM_002018.3:c.3793T>C | NP_002009.1:p.Cys1265Arg | |
| XM_005256555.2:c.3874T>C | XP_005256612.1:p.Cys1292Arg | |
| XM_005256556.2:c.3871T>C | XP_005256613.1:p.Cys1291Arg | |
| XM_005256558.1:c.3790T>C | XP_005256615.1:p.Cys1264Arg | |
| XM_005256555.4:c.3874T>C | XP_005256612.1:p.Cys1292Arg | |
| XM_005256556.4:c.3871T>C | XP_005256613.1:p.Cys1291Arg | |
| XM_005256558.3:c.3790T>C | XP_005256615.1:p.Cys1264Arg | |
| NM_002018.4:c.3793T>C MANE Select | NP_002009.1:p.Cys1265Arg | |
| NM_001256264.2:c.3760T>C | NP_001243193.1:p.Cys1254Arg | |
| NM_001256265.2:c.3628T>C | NP_001243194.1:p.Cys1210Arg |