Linked Data
ClinVar Variation Id:
419551
ClinVar RCV Id:
RCV000486598
dbSNP Id:
rs1064793947
gnomAD v4:
2-199455914-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.199455914C>A , CM000664.2:g.199455914C>A | GRCh38 |
| NC_000002.11:g.200320637C>A , CM000664.1:g.200320637C>A | GRCh37 |
| NC_000002.10:g.200028882C>A | NCBI36 |
| NG_016976.1:g.20353G>T | |
| NG_016976.2:g.20353G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000428695.6:c.124G>T | ENSP00000388581.1:p.Gly42Ter | |
| ENST00000700191.1:c.124G>T | ENSP00000514853.1:p.Gly42Ter | |
| ENST00000700193.1:c.124G>T | ENSP00000514854.1:p.Gly42Ter | |
| ENST00000700194.1:n.382G>T | ||
| ENST00000700208.1:c.124G>T | ENSP00000514860.1:p.Gly42Ter | |
| ENST00000417098.6:c.124G>T MANE Select | ENSP00000401112.1:p.Gly42Ter | |
| ENST00000260926.9:c.124G>T | ENSP00000260926.5:p.Gly42Ter | |
| ENST00000417098.5:c.124G>T | ENSP00000401112.1:p.Gly42Ter | |
| ENST00000428695.5:c.124G>T | ENSP00000388581.1:p.Gly42Ter | |
| ENST00000440919.1:c.124G>T | ENSP00000415610.1:p.Gly42Ter | |
| ENST00000443023.5:c.124G>T | ENSP00000388764.1:p.Gly42Ter | |
| ENST00000457245.5:c.124G>T | ENSP00000405420.1:p.Gly42Ter | |
| ENST00000614512.4:c.124G>T | ENSP00000483287.1:p.Gly42Ter | |
| NM_001172509.1:c.124G>T | NP_001165980.1:p.Gly42Ter | |
| NM_001172517.1:c.124G>T | NP_001165988.1:p.Gly42Ter | |
| NM_015265.3:c.124G>T | NP_056080.1:p.Gly42Ter | |
| XM_005246396.1:c.-6+4538G>T | XP_005246453.1:n.-6+4538G>T | |
| XM_006712372.1:c.124G>T | XP_006712435.1:p.Gly42Ter | |
| XM_011510840.1:c.124G>T | XP_011509142.1:p.Gly42Ter | |
| NR_134967.1:n.941G>T | ||
| XM_005246396.3:c.-6+4538G>T | XP_005246453.1:n.-6+4538G>T | |
| XM_011510840.3:c.124G>T | XP_011509142.1:p.Gly42Ter | |
| XM_017003656.1:c.-6+4538G>T | XP_016859145.1:n.-6+4538G>T | |
| NM_001172509.2:c.124G>T MANE Select | NP_001165980.1:p.Gly42Ter | |
| NM_015265.4:c.124G>T | NP_056080.1:p.Gly42Ter | |
| NR_134967.2:n.784G>T |