Linked Data
ClinVar Variation Id:
2492755
ClinVar RCV Id:
RCV003218060
dbSNP Id:
rs149759545
ExAC:
X:67283846 C / T
gnomAD v2:
X-67283846-C-T
gnomAD v3:
X-68064004-C-T
gnomAD v4:
X-68064004-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68064004C>T , CM000685.2:g.68064004C>T | GRCh38 |
| NC_000023.10:g.67283846C>T , CM000685.1:g.67283846C>T | GRCh37 |
| NC_000023.9:g.67200571C>T | NCBI36 |
| NG_008960.1:g.374454G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355520.6:c.2008G>A MANE Select | ENSP00000347710.5:p.Val670Met | |
| ENST00000679748.1:c.1834+9148G>A | ENSP00000505800.1:n.1834+9148G>A | |
| ENST00000679822.1:c.1834+9148G>A | ENSP00000505810.1:n.1834+9148G>A | |
| ENST00000680592.1:n.1514G>A | ||
| ENST00000680612.1:c.1686+32866G>A | ENSP00000505365.1:n.1686+32866G>A | |
| ENST00000681408.1:c.1903G>A | ENSP00000506619.1:p.Val635Met | |
| ENST00000355520.5:c.2008G>A | ENSP00000347710.5:p.Val670Met | |
| ENST00000484842.1:n.624G>A | ||
| NM_002547.2:c.2008G>A | NP_002538.1:p.Val670Met | |
| XM_005262270.1:c.1834+9148G>A | XP_005262327.1:n.1834+9148G>A | |
| XM_006724653.1:c.2008G>A | XP_006724716.1:p.Val670Met | |
| XM_011530961.1:c.2008G>A | XP_011529263.1:p.Val670Met | |
| XM_006724653.2:c.2008G>A | XP_006724716.1:p.Val670Met | |
| NM_002547.3:c.2008G>A MANE Select | NP_002538.1:p.Val670Met |