Linked Data
ClinVar Variation Id:
533722
dbSNP Id:
rs200212002
ExAC:
1:112319711 C / T
gnomAD v2:
1-112319711-C-T
gnomAD v3:
1-111777089-C-T
gnomAD v4:
1-111777089-C-T
COSMIC:
COSM329434
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111777089C>T , CM000663.2:g.111777089C>T | GRCh38 |
| NC_000001.10:g.112319711C>T , CM000663.1:g.112319711C>T | GRCh37 |
| NC_000001.9:g.112121234C>T | NCBI36 |
| NG_032011.2:g.217067G>A , LRG_445:g.217067G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703640.1:n.2337G>A | ||
| ENST00000302127.5:c.1703G>A MANE Select | ENSP00000306923.4:p.Arg568His | |
| ENST00000302127.4:c.1646G>A | ENSP00000306923.3:p.Arg549His | |
| ENST00000315987.6:c.1703G>A | ENSP00000319591.2:p.Arg568His | |
| ENST00000369697.5:c.1646G>A | ENSP00000358711.1:p.Arg549His | |
| NM_004980.4:c.1703G>A , LRG_445t1:c.1703G>A | NP_004971.2:p.Arg568His | |
| NM_172198.2:c.1646G>A | NP_751948.1:p.Arg549His | |
| XM_005270851.3:c.1703G>A | XP_005270908.1:p.Arg568His | |
| XM_006710629.2:c.1703G>A | XP_006710692.1:p.Arg568His | |
| XM_006710630.2:c.1646G>A | XP_006710693.1:p.Arg549His | |
| XM_006710631.2:c.1519-811G>A | XP_006710694.1:n.1519-811G>A | |
| XM_005270851.4:c.1703G>A | XP_005270908.1:p.Arg568His | |
| XM_006710629.4:c.1703G>A | XP_006710692.1:p.Arg568His | |
| XM_006710630.3:c.1646G>A | XP_006710693.1:p.Arg549His | |
| XM_006710631.3:c.1519-811G>A | XP_006710694.1:n.1519-811G>A | |
| XM_017001244.2:c.1703G>A | XP_016856733.1:p.Arg568His | |
| NM_001378969.1:c.1703G>A MANE Select | NP_001365898.1:p.Arg568His | |
| NM_001378970.1:c.1646G>A | NP_001365899.1:p.Arg549His | |
| NM_004980.5:c.1703G>A | NP_004971.2:p.Arg568His | |
| NM_172198.3:c.1646G>A | NP_751948.1:p.Arg549His |