Linked Data
ClinVar Variation Id:
2631878
ClinVar RCV Id:
RCV003397650
dbSNP Id:
rs146129125
ExAC:
10:101577179 T / C
gnomAD v2:
10-101577179-T-C
gnomAD v3:
10-99817422-T-C
gnomAD v4:
10-99817422-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99817422T>C , CM000672.2:g.99817422T>C | GRCh38 |
| NC_000010.10:g.101577179T>C , CM000672.1:g.101577179T>C | GRCh37 |
| NC_000010.9:g.101567169T>C | NCBI36 |
| NG_011798.1:g.39717T>C | |
| NG_011798.2:g.39825T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.2209T>C MANE Select | ENSP00000497274.1:p.Cys737Arg | |
| ENST00000370449.8:c.2209T>C | ENSP00000359478.4:p.Cys737Arg | |
| NM_000392.4:c.2209T>C | NP_000383.1:p.Cys737Arg | |
| XM_006717630.2:c.1513T>C | XP_006717693.1:p.Cys505Arg | |
| XM_006717631.2:c.2209T>C | XP_006717694.1:p.Cys737Arg | |
| XM_011539291.1:c.2209T>C | XP_011537593.1:p.Cys737Arg | |
| XR_945604.1:n.2398T>C | ||
| XR_945605.1:n.2400T>C | ||
| NM_000392.5:c.2209T>C MANE Select | NP_000383.2:p.Cys737Arg | |
| XM_006717630.3:c.1513T>C | XP_006717693.1:p.Cys505Arg | |
| XM_006717631.4:c.2209T>C | XP_006717694.1:p.Cys737Arg | |
| XM_011539291.3:c.2209T>C | XP_011537593.1:p.Cys737Arg | |
| XM_017015675.2:c.2209T>C | XP_016871164.1:p.Cys737Arg | |
| XR_945604.3:n.2452T>C | ||
| XR_945605.3:n.2452T>C |