Linked Data
ClinVar Variation Id:
11579
ClinVar RCV Id:
RCV000012335
dbSNP Id:
rs137854493
gnomAD v4:
X-68299067-G-A
PubMed:
PMID:12807966
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68299067G>A , CM000685.2:g.68299067G>A | GRCh38 |
| NC_000023.10:g.67518909G>A , CM000685.1:g.67518909G>A | GRCh37 |
| NC_000023.9:g.67435634G>A | NCBI36 |
| NG_008960.1:g.139391C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355520.6:c.184C>T MANE Select | ENSP00000347710.5:p.Gln62Ter | |
| ENST00000679748.1:c.184C>T | ENSP00000505800.1:p.Gln62Ter | |
| ENST00000679822.1:c.184C>T | ENSP00000505810.1:p.Gln62Ter | |
| ENST00000679914.1:n.543C>T | ||
| ENST00000680417.1:n.5C>T | ||
| ENST00000680503.1:n.861C>T | ||
| ENST00000680612.1:c.184C>T | ENSP00000505365.1:p.Gln62Ter | |
| ENST00000681408.1:c.184C>T | ENSP00000506619.1:p.Gln62Ter | |
| ENST00000355520.5:c.184C>T | ENSP00000347710.5:p.Gln62Ter | |
| ENST00000486068.1:n.54C>T | ||
| NM_002547.2:c.184C>T | NP_002538.1:p.Gln62Ter | |
| XM_005262270.1:c.184C>T | XP_005262327.1:p.Gln62Ter | |
| XM_006724653.1:c.184C>T | XP_006724716.1:p.Gln62Ter | |
| XM_011530961.1:c.184C>T | XP_011529263.1:p.Gln62Ter | |
| XM_006724653.2:c.184C>T | XP_006724716.1:p.Gln62Ter | |
| XM_017029555.1:c.184C>T | XP_016885044.1:p.Gln62Ter | |
| NM_002547.3:c.184C>T MANE Select | NP_002538.1:p.Gln62Ter |