Linked Data
ClinVar Variation Id:
426935
ClinVar RCV Id:
RCV000489661
dbSNP Id:
rs1085307858
gnomAD v2:
3-142985740-A-G
gnomAD v4:
3-143266898-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143266898A>G , CM000665.2:g.143266898A>G | GRCh38 |
| NC_000003.11:g.142985740A>G , CM000665.1:g.142985740A>G | GRCh37 |
| NC_000003.10:g.144468430A>G | NCBI36 |
| NG_017077.1:g.586634T>C | |
| NG_017077.2:g.586634T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316549.11:c.1742T>C MANE Select | ENSP00000320246.6:p.Ile581Thr | |
| ENST00000316549.10:c.1742T>C | ENSP00000320246.6:p.Ile581Thr | |
| NM_173653.3:c.1742T>C | NP_775924.1:p.Ile581Thr | |
| XM_011512703.1:c.1094T>C | XP_011511005.1:p.Ile365Thr | |
| XM_011512703.3:c.1094T>C | XP_011511005.1:p.Ile365Thr | |
| XM_017006203.1:c.1391T>C | XP_016861692.1:p.Ile464Thr | |
| NM_173653.4:c.1742T>C MANE Select | NP_775924.1:p.Ile581Thr |