Linked Data
ClinVar Variation Id:
2032500
ClinVar RCV Id:
RCV002877037
dbSNP Id:
rs370905905
ExAC:
4:128554351 A / C
gnomAD v2:
4-128554351-A-C
gnomAD v3:
4-127633196-A-C
gnomAD v4:
4-127633196-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127633196A>C , CM000666.2:g.127633196A>C | GRCh38 |
| NC_000004.11:g.128554351A>C , CM000666.1:g.128554351A>C | GRCh37 |
| NC_000004.10:g.128773801A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335251.11:c.146+16A>C MANE Select | ENSP00000334003.5:n.146+16A>C | |
| ENST00000335251.10:c.146+16A>C | ENSP00000334003.5:n.146+16A>C | |
| ENST00000503626.5:c.146+16A>C | ENSP00000426287.1:n.146+16A>C | |
| ENST00000503952.5:c.146+16A>C | ENSP00000421995.1:n.146+16A>C | |
| ENST00000504491.1:c.89+9705A>C | ENSP00000422550.1:n.89+9705A>C | |
| NM_015693.3:c.146+16A>C | NP_056508.2:n.146+16A>C | |
| XM_011531844.1:c.146+16A>C | XP_011530146.1:n.146+16A>C | |
| XM_011531845.1:c.146+16A>C | XP_011530147.1:n.146+16A>C | |
| XM_011531846.1:c.89+9705A>C | XP_011530148.1:n.89+9705A>C | |
| XM_011531849.1:c.146+16A>C | XP_011530151.1:n.146+16A>C | |
| XM_011531850.1:c.146+16A>C | XP_011530152.1:n.146+16A>C | |
| XM_011531851.1:c.146+16A>C | XP_011530153.1:n.146+16A>C | |
| XR_938720.1:n.249+16A>C | ||
| XM_011531844.3:c.146+16A>C | XP_011530146.1:n.146+16A>C | |
| XM_011531845.3:c.146+16A>C | XP_011530147.1:n.146+16A>C | |
| XM_011531849.3:c.146+16A>C | XP_011530151.1:n.146+16A>C | |
| XM_011531850.3:c.146+16A>C | XP_011530152.1:n.146+16A>C | |
| XM_011531851.3:c.146+16A>C | XP_011530153.1:n.146+16A>C | |
| XM_017008026.2:c.146+16A>C | XP_016863515.1:n.146+16A>C | |
| XR_001741201.1:n.221+9705A>C | ||
| NM_015693.4:c.146+16A>C MANE Select | NP_056508.2:n.146+16A>C |