Linked Data
ClinVar Variation Id:
156587
dbSNP Id:
rs587777871
gnomAD v2:
6-119149088-A-G
gnomAD v4:
6-118827925-A-G
PubMed:
PMID:25480036
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.118827925A>G , CM000668.2:g.118827925A>G | GRCh38 |
| NC_000006.11:g.119149088A>G , CM000668.1:g.119149088A>G | GRCh37 |
| NC_000006.10:g.119255780A>G | NCBI36 |
| NG_041822.1:g.112238T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619706.5:c.1732+2T>C MANE Select | ENSP00000480469.1:n.1732+2T>C | |
| ENST00000316316.10:c.1732+2T>C | ENSP00000314505.5:n.1732+2T>C | |
| ENST00000458674.2:c.207-1061T>C | ||
| ENST00000619706.4:c.1732+2T>C | ENSP00000480469.1:n.1732+2T>C | |
| NM_017696.2:c.1732+2T>C | NP_060166.2:n.1732+2T>C | |
| NM_001378356.1:c.1732+2T>C | NP_001365285.1:n.1732+2T>C | |
| NM_001378357.1:c.1732+2T>C | NP_001365286.1:n.1732+2T>C | |
| NM_001378359.1:c.1732+2T>C | NP_001365288.1:n.1732+2T>C | |
| NM_001378360.1:c.1732+2T>C | NP_001365289.1:n.1732+2T>C | |
| NM_001378364.1:c.1529-1061T>C | NP_001365293.1:n.1529-1061T>C | |
| NM_001378366.1:c.1606+2T>C | NP_001365295.1:n.1606+2T>C | |
| NM_001378367.1:c.1534+2T>C | NP_001365296.1:n.1534+2T>C | |
| NM_017696.3:c.1732+2T>C MANE Select | NP_060166.2:n.1732+2T>C | |
| NR_165493.1:n.1841+2T>C |