Linked Data
ClinVar Variation Id:
1601328
ClinVar RCV Id:
RCV002125051
dbSNP Id:
rs375251270
ExAC:
2:72607007 A / G
gnomAD v2:
2-72607007-A-G
gnomAD v3:
2-72379878-A-G
gnomAD v4:
2-72379878-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72379878A>G , CM000664.2:g.72379878A>G | GRCh38 |
| NC_000002.11:g.72607007A>G , CM000664.1:g.72607007A>G | GRCh37 |
| NC_000002.10:g.72460515A>G | NCBI36 |
| NG_050967.1:g.451171T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272427.11:c.1981-8T>C MANE Select | ENSP00000272427.7:n.1981-8T>C | |
| ENST00000272427.10:c.1981-8T>C | ENSP00000272427.6:n.1981-8T>C | |
| ENST00000464347.2:n.403-8T>C | ||
| ENST00000634650.1:c.1981-8T>C | ENSP00000489442.1:n.1981-8T>C | |
| NM_015189.1:c.1981-8T>C | NP_056004.1:n.1981-8T>C | |
| XM_005264223.1:c.1981-8T>C | XP_005264280.1:n.1981-8T>C | |
| XM_005264224.1:c.985-8T>C | XP_005264281.1:n.985-8T>C | |
| XM_011532710.1:c.1912-8T>C | XP_011531012.1:n.1912-8T>C | |
| NM_001321729.1:c.1981-8T>C | NP_001308658.1:n.1981-8T>C | |
| NM_001321730.1:c.1846-8T>C | NP_001308659.1:n.1846-8T>C | |
| NM_001321731.1:c.1981-8T>C | NP_001308660.1:n.1981-8T>C | |
| NM_001321733.1:c.1846-8T>C | NP_001308662.1:n.1846-8T>C | |
| NM_001321734.1:c.1642-8T>C | NP_001308663.1:n.1642-8T>C | |
| NM_015189.2:c.1981-8T>C | NP_056004.1:n.1981-8T>C | |
| NR_135773.1:n.2113-8T>C | ||
| NR_135774.1:n.1933-44858T>C | ||
| XM_017003641.1:c.1435-8T>C | XP_016859130.1:n.1435-8T>C | |
| XM_017003642.1:c.985-8T>C | XP_016859131.1:n.985-8T>C | |
| NM_001321729.2:c.1981-8T>C | NP_001308658.1:n.1981-8T>C | |
| NM_001321730.2:c.1846-8T>C | NP_001308659.1:n.1846-8T>C | |
| NM_001321731.2:c.1981-8T>C | NP_001308660.1:n.1981-8T>C | |
| NM_001321733.2:c.1846-8T>C | NP_001308662.1:n.1846-8T>C | |
| NM_001321734.2:c.1642-8T>C | NP_001308663.1:n.1642-8T>C | |
| NM_015189.3:c.1981-8T>C MANE Select | NP_056004.1:n.1981-8T>C | |
| NR_135773.2:n.2104-8T>C | ||
| NR_135774.2:n.1924-44858T>C |