Linked Data
ClinVar Variation Id:
2755233
ClinVar RCV Id:
RCV003495819
dbSNP Id:
rs756087154
ExAC:
7:65426061 A / C
gnomAD v2:
7-65426061-A-C
gnomAD v4:
7-65961074-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65961074A>C , CM000669.2:g.65961074A>C | GRCh38 |
| NC_000007.13:g.65426061A>C , CM000669.1:g.65426061A>C | GRCh37 |
| NC_000007.12:g.65063496A>C | NCBI36 |
| NG_016197.1:g.26241T>G | |
| NG_051954.1:g.92976A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1790-11T>G MANE Select | ENSP00000302728.4:n.1790-11T>G | |
| ENST00000304895.8:c.1790-11T>G | ENSP00000302728.4:n.1790-11T>G | |
| ENST00000421103.5:c.1352-11T>G | ENSP00000391390.1:n.1352-11T>G | |
| ENST00000430730.5:c.*1057-11T>G | ENSP00000411859.1:n.*1057-11T>G | |
| ENST00000447929.5:c.*1170-11T>G | ENSP00000411262.1:n.*1170-11T>G | |
| ENST00000466883.5:n.2180-11T>G | ||
| NM_000181.3:c.1790-11T>G | NP_000172.2:n.1790-11T>G | |
| NM_001284290.1:c.1352-11T>G | NP_001271219.1:n.1352-11T>G | |
| NM_001293104.1:c.1220-11T>G | NP_001280033.1:n.1220-11T>G | |
| NM_001293105.1:c.1133-11T>G | NP_001280034.1:n.1133-11T>G | |
| NR_120531.1:n.1836-11T>G | ||
| XM_005250297.3:c.1637-11T>G | XP_005250354.1:n.1637-11T>G | |
| XM_011516113.1:c.1289-11T>G | XP_011514415.1:n.1289-11T>G | |
| XM_011516114.1:c.1118-11T>G | XP_011514416.1:n.1118-11T>G | |
| XM_005250297.4:c.1637-11T>G | XP_005250354.1:n.1637-11T>G | |
| XM_011516114.2:c.1118-11T>G | XP_011514416.1:n.1118-11T>G | |
| XM_017012091.1:c.1136-11T>G | XP_016867580.1:n.1136-11T>G | |
| XM_017012092.1:c.1067-11T>G | XP_016867581.1:n.1067-11T>G | |
| XM_017012093.2:c.965-11T>G | XP_016867582.1:n.965-11T>G | |
| XR_001744658.2:n.1597-11T>G | ||
| XR_001744659.2:n.1710-11T>G | ||
| XR_001744660.2:n.1642-11T>G | ||
| XR_001744661.2:n.1557-11T>G | ||
| XR_927461.3:n.1795-11T>G | ||
| NM_000181.4:c.1790-11T>G MANE Select | NP_000172.2:n.1790-11T>G | |
| NM_001284290.2:c.1352-11T>G | NP_001271219.1:n.1352-11T>G | |
| NM_001293104.2:c.1220-11T>G | NP_001280033.1:n.1220-11T>G | |
| NM_001293105.2:c.1133-11T>G | NP_001280034.1:n.1133-11T>G | |
| NR_120531.2:n.1735-11T>G |