Linked Data
ClinVar Variation Id:
1166860
ClinVar RCV Id:
RCV001515521
dbSNP Id:
rs2269067
ExAC:
9:123737040 G / C
gnomAD v2:
9-123737040-G-C
gnomAD v3:
9-120974762-G-C
gnomAD v4:
9-120974762-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120974762G>C , CM000671.2:g.120974762G>C | GRCh38 |
| NC_000009.11:g.123737040G>C , CM000671.1:g.123737040G>C | GRCh37 |
| NC_000009.10:g.122776861G>C | NCBI36 |
| NG_007364.1:g.80515C>G , LRG_28:g.80515C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480188.2:n.928+17C>G | ||
| ENST00000696279.1:c.4337+17C>G | ||
| ENST00000696280.1:n.4106+17C>G | ||
| ENST00000696281.1:c.4035+17C>G | ENSP00000512521.1:n.4035+17C>G | |
| ENST00000697921.1:n.2895+17C>G | ||
| ENST00000697922.1:c.*4007+17C>G | ENSP00000513478.1:n.*4007+17C>G | |
| ENST00000697923.1:n.4462+17C>G | ||
| ENST00000223642.3:c.4017+17C>G MANE Select | ENSP00000223642.1:n.4017+17C>G | |
| ENST00000223642.2:c.4017+17C>G | ENSP00000223642.1:n.4017+17C>G | |
| NM_001735.2:c.4017+17C>G , LRG_28t1:c.4017+17C>G | NP_001726.2:n.4017+17C>G | |
| XM_011518980.1:c.4032+17C>G | XP_011517282.1:n.4032+17C>G | |
| NM_001317163.1:c.4035+17C>G | NP_001304092.1:n.4035+17C>G | |
| NM_001317163.2:c.4035+17C>G | NP_001304092.1:n.4035+17C>G | |
| NM_001735.3:c.4017+17C>G MANE Select | NP_001726.2:n.4017+17C>G |