Linked Data
ClinVar Variation Id:
2526910
ClinVar RCV Id:
RCV003285279
dbSNP Id:
rs193053365
ExAC:
7:42005531 T / G
gnomAD v2:
7-42005531-T-G
gnomAD v3:
7-41965933-T-G
gnomAD v4:
7-41965933-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41965933T>G , CM000669.2:g.41965933T>G | GRCh38 |
| NC_000007.13:g.42005531T>G , CM000669.1:g.42005531T>G | GRCh37 |
| NC_000007.12:g.41972056T>G | NCBI36 |
| NG_008434.1:g.276088A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.3140A>C MANE Select | ENSP00000379258.3:p.Gln1047Pro | |
| ENST00000677288.1:c.2966A>C | ENSP00000503986.1:p.Gln989Pro | |
| ENST00000677605.1:c.3140A>C | ENSP00000503743.1:p.Gln1047Pro | |
| ENST00000678429.1:c.3140A>C | ENSP00000502957.1:p.Gln1047Pro | |
| ENST00000395925.7:c.3140A>C | ENSP00000379258.3:p.Gln1047Pro | |
| ENST00000479210.1:n.3117A>C | ||
| NM_000168.5:c.3140A>C | NP_000159.3:p.Gln1047Pro | |
| XM_005249703.1:c.3140A>C | XP_005249760.1:p.Gln1047Pro | |
| XM_005249704.2:c.3140A>C | XP_005249761.1:p.Gln1047Pro | |
| XM_011515272.1:c.3140A>C | XP_011513574.1:p.Gln1047Pro | |
| XM_011515273.1:c.3140A>C | XP_011513575.1:p.Gln1047Pro | |
| XM_011515274.1:c.2963A>C | XP_011513576.1:p.Gln988Pro | |
| XM_011515274.2:c.2963A>C | XP_011513576.1:p.Gln988Pro | |
| XM_017011997.1:c.3137A>C | XP_016867486.1:p.Gln1046Pro | |
| NM_000168.6:c.3140A>C MANE Select | NP_000159.3:p.Gln1047Pro |