Linked Data
ClinVar Variation Id:
367634
dbSNP Id:
rs992648722
gnomAD v2:
9-98206771-A-G
gnomAD v3:
9-95444489-A-G
gnomAD v4:
9-95444489-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95444489A>G , CM000671.2:g.95444489A>G | GRCh38 |
| NC_000009.11:g.98206771A>G , CM000671.1:g.98206771A>G | GRCh37 |
| NC_000009.10:g.97246592A>G | NCBI36 |
| NG_007664.1:g.77477T>C , LRG_515:g.77477T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711046.1:c.*1904T>C | ENSP00000518556.1:n.*1904T>C | |
| ENST00000437951.6:c.*1904T>C MANE Plus Clinical | ENSP00000389744.2:n.*1904T>C | |
| ENST00000687744.1:n.4964T>C | ||
| ENST00000690194.1:c.*4556T>C | ENSP00000509379.1:n.*4556T>C | |
| ENST00000692981.1:c.*1904T>C | ENSP00000510238.1:n.*1904T>C | |
| ENST00000693534.1:n.3595T>C | ||
| ENST00000331920.11:c.*1904T>C MANE Select | ENSP00000332353.6:n.*1904T>C | |
| ENST00000331920.10:c.*1904T>C | ENSP00000332353.6:n.*1904T>C | |
| ENST00000375290.6:c.9554T>C | ENSP00000364439.2:n.9554T>C | |
| ENST00000418258.5:c.*1904T>C | ENSP00000396135.1:n.*1904T>C | |
| ENST00000421141.5:c.*1904T>C | ENSP00000399981.1:n.*1904T>C | |
| ENST00000429896.6:c.*1904T>C | ENSP00000414823.2:n.*1904T>C | |
| ENST00000430669.6:c.*2423T>C | ENSP00000410287.2:n.*2423T>C | |
| ENST00000437951.5:c.*1904T>C | ENSP00000389744.1:n.*1904T>C | |
| ENST00000546744.5:n.3312T>C | ||
| NM_000264.3:c.*1904T>C , LRG_515t1:c.*1904T>C | NP_000255.2:n.*1904T>C | |
| NM_001083602.1:c.*1904T>C , LRG_515t2:c.*1904T>C | NP_001077071.1:n.*1904T>C | |
| NM_001083603.1:c.*1904T>C | NP_001077072.1:n.*1904T>C | |
| NM_001083604.1:c.*1904T>C | NP_001077073.1:n.*1904T>C | |
| NM_001083605.1:c.*1904T>C | NP_001077074.1:n.*1904T>C | |
| NM_001083606.1:c.*1904T>C | NP_001077075.1:n.*1904T>C | |
| NM_001083607.1:c.*1904T>C | NP_001077076.1:n.*1904T>C | |
| XM_005252102.2:c.*1904T>C | XP_005252159.1:n.*1904T>C | |
| XM_011518868.1:c.*1904T>C | XP_011517170.1:n.*1904T>C | |
| XM_011518869.1:c.*1904T>C | XP_011517171.1:n.*1904T>C | |
| XM_011518870.1:c.*1904T>C | XP_011517172.1:n.*1904T>C | |
| XM_011518871.1:c.*1904T>C | XP_011517173.1:n.*1904T>C | |
| XM_011518872.1:c.*1904T>C | XP_011517174.1:n.*1904T>C | |
| XM_011518873.1:c.*1904T>C | XP_011517175.1:n.*1904T>C | |
| NM_000264.4:c.*1904T>C | NP_000255.2:n.*1904T>C | |
| NM_001083602.2:c.*1904T>C | NP_001077071.1:n.*1904T>C | |
| NM_001083603.2:c.*1904T>C | NP_001077072.1:n.*1904T>C | |
| NM_001083604.2:c.*1904T>C | NP_001077073.1:n.*1904T>C | |
| NM_001083605.2:c.*1904T>C | NP_001077074.1:n.*1904T>C | |
| NM_001083606.2:c.*1904T>C | NP_001077075.1:n.*1904T>C | |
| NM_001083607.2:c.*1904T>C | NP_001077076.1:n.*1904T>C | |
| NM_001354918.1:c.*1904T>C | NP_001341847.1:n.*1904T>C | |
| NR_149061.1:n.6270T>C | ||
| NM_000264.5:c.*1904T>C MANE Select | NP_000255.2:n.*1904T>C | |
| NM_001083606.3:c.*1904T>C | NP_001077075.1:n.*1904T>C | |
| NM_001354918.2:c.*1904T>C | NP_001341847.1:n.*1904T>C | |
| NR_149061.2:n.6987T>C | ||
| NM_001083602.3:c.*1904T>C | NP_001077071.1:n.*1904T>C | |
| NM_001083603.3:c.*1904T>C MANE Plus Clinical | NP_001077072.1:n.*1904T>C | |
| NM_001083604.3:c.*1904T>C | NP_001077073.1:n.*1904T>C | |
| NM_001083605.3:c.*1904T>C | NP_001077074.1:n.*1904T>C | |
| NM_001083607.3:c.*1904T>C | NP_001077076.1:n.*1904T>C |