Linked Data
ClinVar Variation Id:
2150558
ClinVar RCV Id:
RCV003071905
dbSNP Id:
rs372445201
ExAC:
X:67283847 G / A
gnomAD v2:
X-67283847-G-A
gnomAD v3:
X-68064005-G-A
gnomAD v4:
X-68064005-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68064005G>A , CM000685.2:g.68064005G>A | GRCh38 |
| NC_000023.10:g.67283847G>A , CM000685.1:g.67283847G>A | GRCh37 |
| NC_000023.9:g.67200572G>A | NCBI36 |
| NG_008960.1:g.374453C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355520.6:c.2007C>T MANE Select | ENSP00000347710.5:p.Asp669= | |
| ENST00000679748.1:c.1834+9147C>T | ENSP00000505800.1:n.1834+9147C>T | |
| ENST00000679822.1:c.1834+9147C>T | ENSP00000505810.1:n.1834+9147C>T | |
| ENST00000680592.1:n.1513C>T | ||
| ENST00000680612.1:c.1686+32865C>T | ENSP00000505365.1:n.1686+32865C>T | |
| ENST00000681408.1:c.1902C>T | ENSP00000506619.1:p.Asp634= | |
| ENST00000355520.5:c.2007C>T | ENSP00000347710.5:p.Asp669= | |
| ENST00000484842.1:n.623C>T | ||
| NM_002547.2:c.2007C>T | NP_002538.1:p.Asp669= | |
| XM_005262270.1:c.1834+9147C>T | XP_005262327.1:n.1834+9147C>T | |
| XM_006724653.1:c.2007C>T | XP_006724716.1:p.Asp669= | |
| XM_011530961.1:c.2007C>T | XP_011529263.1:p.Asp669= | |
| XM_006724653.2:c.2007C>T | XP_006724716.1:p.Asp669= | |
| NM_002547.3:c.2007C>T MANE Select | NP_002538.1:p.Asp669= |