Linked Data
ClinVar Variation Id:
2955709
ClinVar RCV Id:
RCV003810860
dbSNP Id:
rs1160550574
gnomAD v2:
2-26690281-C-T
gnomAD v4:
2-26467413-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26467413C>T , CM000664.2:g.26467413C>T | GRCh38 |
| NC_000002.11:g.26690281C>T , CM000664.1:g.26690281C>T | GRCh37 |
| NC_000002.10:g.26543785C>T | NCBI36 |
| NG_009937.1:g.96286G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.4179G>A MANE Select | ENSP00000272371.2:p.Gln1393= | |
| ENST00000339598.8:c.1878G>A MANE Plus Clinical | ENSP00000344521.3:p.Gln626= | |
| ENST00000402415.8:c.1938G>A | ENSP00000383906.4:p.Gln646= | |
| ENST00000272371.6:c.4179G>A | ENSP00000272371.2:p.Gln1393= | |
| ENST00000338581.10:c.1878G>A | ENSP00000345137.6:p.Gln626= | |
| ENST00000339598.7:c.1878G>A | ENSP00000344521.3:p.Gln626= | |
| ENST00000402415.7:c.2109G>A | ENSP00000383906.3:p.Gln703= | |
| ENST00000403946.7:c.4179G>A | ENSP00000385255.3:p.Gln1393= | |
| NM_001287489.1:c.4179G>A | NP_001274418.1:p.Gln1393= | |
| NM_004802.3:c.1878G>A | NP_004793.2:p.Gln626= | |
| NM_194248.2:c.4179G>A | NP_919224.1:p.Gln1393= | |
| NM_194322.2:c.2109G>A | NP_919303.1:p.Gln703= | |
| NM_194323.2:c.1878G>A | NP_919304.1:p.Gln626= | |
| XM_005264644.2:c.4164G>A | XP_005264701.1:p.Gln1388= | |
| XM_011533185.1:c.4224G>A | XP_011531487.1:p.Gln1408= | |
| XM_017005338.1:c.4119G>A | XP_016860827.1:p.Gln1373= | |
| NM_001287489.2:c.4179G>A | NP_001274418.1:p.Gln1393= | |
| NM_004802.4:c.1878G>A | NP_004793.2:p.Gln626= | |
| NM_194248.3:c.4179G>A MANE Select | NP_919224.1:p.Gln1393= | |
| NM_194322.3:c.2109G>A | NP_919303.1:p.Gln703= | |
| NM_194323.3:c.1878G>A MANE Plus Clinical | NP_919304.1:p.Gln626= |