Linked Data
ClinVar Variation Id:
1651696
ClinVar RCV Id:
RCV002155830
dbSNP Id:
rs757661535
gnomAD v4:
9-120957265-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120957265A>G , CM000671.2:g.120957265A>G | GRCh38 |
| NC_000009.11:g.123719543A>G , CM000671.1:g.123719543A>G | GRCh37 |
| NC_000009.10:g.122759364A>G | NCBI36 |
| NG_007364.1:g.98012T>C , LRG_28:g.98012T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.1816T>C | ||
| ENST00000696279.1:c.5082+20T>C | ||
| ENST00000696280.1:n.4851+20T>C | ||
| ENST00000696281.1:c.4780+20T>C | ENSP00000512521.1:n.4780+20T>C | |
| ENST00000697921.1:n.3640+20T>C | ||
| ENST00000697922.1:c.*4752+20T>C | ENSP00000513478.1:n.*4752+20T>C | |
| ENST00000697923.1:n.5227T>C | ||
| ENST00000223642.3:c.4762+20T>C MANE Select | ENSP00000223642.1:n.4762+20T>C | |
| ENST00000223642.2:c.4762+20T>C | ENSP00000223642.1:n.4762+20T>C | |
| ENST00000480188.1:n.315T>C | ||
| NM_001735.2:c.4762+20T>C , LRG_28t1:c.4762+20T>C | NP_001726.2:n.4762+20T>C | |
| XM_011518980.1:c.4777+20T>C | XP_011517282.1:n.4777+20T>C | |
| NM_001317163.1:c.4780+20T>C | NP_001304092.1:n.4780+20T>C | |
| NM_001317163.2:c.4780+20T>C | NP_001304092.1:n.4780+20T>C | |
| NM_001735.3:c.4762+20T>C MANE Select | NP_001726.2:n.4762+20T>C |