Linked Data
ClinVar Variation Id:
2999799
ClinVar RCV Id:
RCV003854910
dbSNP Id:
rs373962158
ExAC:
4:128577888 C / G
gnomAD v2:
4-128577888-C-G
gnomAD v3:
4-127656733-C-G
gnomAD v4:
4-127656733-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127656733C>G , CM000666.2:g.127656733C>G | GRCh38 |
| NC_000004.11:g.128577888C>G , CM000666.1:g.128577888C>G | GRCh37 |
| NC_000004.10:g.128797338C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335251.11:c.768+12C>G MANE Select | ENSP00000334003.5:n.768+12C>G | |
| ENST00000335251.10:c.768+12C>G | ENSP00000334003.5:n.768+12C>G | |
| ENST00000503626.5:c.768+12C>G | ENSP00000426287.1:n.768+12C>G | |
| ENST00000503952.5:c.768+12C>G | ENSP00000421995.1:n.768+12C>G | |
| NM_015693.3:c.768+12C>G | NP_056508.2:n.768+12C>G | |
| XM_011531844.1:c.768+12C>G | XP_011530146.1:n.768+12C>G | |
| XM_011531845.1:c.768+12C>G | XP_011530147.1:n.768+12C>G | |
| XM_011531846.1:c.711+12C>G | XP_011530148.1:n.711+12C>G | |
| XM_011531847.1:c.-313+12C>G | XP_011530149.1:n.-313+12C>G | |
| XM_011531849.1:c.768+12C>G | XP_011530151.1:n.768+12C>G | |
| XM_011531850.1:c.768+12C>G | XP_011530152.1:n.768+12C>G | |
| XM_011531851.1:c.768+12C>G | XP_011530153.1:n.768+12C>G | |
| XR_938720.1:n.871+12C>G | ||
| XM_011531844.3:c.768+12C>G | XP_011530146.1:n.768+12C>G | |
| XM_011531845.3:c.768+12C>G | XP_011530147.1:n.768+12C>G | |
| XM_011531849.3:c.768+12C>G | XP_011530151.1:n.768+12C>G | |
| XM_011531850.3:c.768+12C>G | XP_011530152.1:n.768+12C>G | |
| XM_011531851.3:c.768+12C>G | XP_011530153.1:n.768+12C>G | |
| XM_017008026.2:c.768+12C>G | XP_016863515.1:n.768+12C>G | |
| XR_001741201.1:n.843+12C>G | ||
| NM_015693.4:c.768+12C>G MANE Select | NP_056508.2:n.768+12C>G |