Linked Data
ClinVar Variation Id:
1188977
ClinVar RCV Id:
RCV001549150
dbSNP Id:
rs4148396
gnomAD v2:
10-101591944-T-C
gnomAD v3:
10-99832187-T-C
gnomAD v4:
10-99832187-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99832187T>C , CM000672.2:g.99832187T>C | GRCh38 |
| NC_000010.10:g.101591944T>C , CM000672.1:g.101591944T>C | GRCh37 |
| NC_000010.9:g.101581934T>C | NCBI36 |
| NG_011798.1:g.54482T>C | |
| NG_011798.2:g.54590T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.3258+56T>C MANE Select | ENSP00000497274.1:n.3258+56T>C | |
| ENST00000370449.8:c.3258+56T>C | ENSP00000359478.4:n.3258+56T>C | |
| NM_000392.4:c.3258+56T>C | NP_000383.1:n.3258+56T>C | |
| XM_006717630.2:c.2562+56T>C | XP_006717693.1:n.2562+56T>C | |
| XR_945604.1:n.3447+56T>C | ||
| XR_945605.1:n.3449+56T>C | ||
| NM_000392.5:c.3258+56T>C MANE Select | NP_000383.2:n.3258+56T>C | |
| XM_006717630.3:c.2562+56T>C | XP_006717693.1:n.2562+56T>C | |
| XR_945604.3:n.3501+56T>C | ||
| XR_945605.3:n.3501+56T>C |