Linked Data
ClinVar Variation Id:
1784626
ClinVar RCV Id:
RCV002419655
dbSNP Id:
rs1023161053
gnomAD v2:
X-67283830-G-A
gnomAD v3:
X-68063988-G-A
gnomAD v4:
X-68063988-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68063988G>A , CM000685.2:g.68063988G>A | GRCh38 |
| NC_000023.10:g.67283830G>A , CM000685.1:g.67283830G>A | GRCh37 |
| NC_000023.9:g.67200555G>A | NCBI36 |
| NG_008960.1:g.374470C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355520.6:c.2024C>T MANE Select | ENSP00000347710.5:p.Ser675Phe | |
| ENST00000679748.1:c.1834+9164C>T | ENSP00000505800.1:n.1834+9164C>T | |
| ENST00000679822.1:c.1834+9164C>T | ENSP00000505810.1:n.1834+9164C>T | |
| ENST00000680592.1:n.1530C>T | ||
| ENST00000680612.1:c.1686+32882C>T | ENSP00000505365.1:n.1686+32882C>T | |
| ENST00000681408.1:c.1919C>T | ENSP00000506619.1:p.Ser640Phe | |
| ENST00000355520.5:c.2024C>T | ENSP00000347710.5:p.Ser675Phe | |
| ENST00000484842.1:n.640C>T | ||
| NM_002547.2:c.2024C>T | NP_002538.1:p.Ser675Phe | |
| XM_005262270.1:c.1834+9164C>T | XP_005262327.1:n.1834+9164C>T | |
| XM_006724653.1:c.2024C>T | XP_006724716.1:p.Ser675Phe | |
| XM_011530961.1:c.2024C>T | XP_011529263.1:p.Ser675Phe | |
| XM_006724653.2:c.2024C>T | XP_006724716.1:p.Ser675Phe | |
| NM_002547.3:c.2024C>T MANE Select | NP_002538.1:p.Ser675Phe |