Linked Data
ClinVar Variation Id:
2939996
ClinVar RCV Id:
RCV003797354
dbSNP Id:
rs782003647
ExAC:
X:48547437 G / A
gnomAD v2:
X-48547437-G-A
gnomAD v4:
X-48689048-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48689048G>A , CM000685.2:g.48689048G>A | GRCh38 |
| NC_000023.10:g.48547437G>A , CM000685.1:g.48547437G>A | GRCh37 |
| NC_000023.9:g.48432381G>A | NCBI36 |
| NG_007877.1:g.10252G>A , LRG_125:g.10252G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474174.2:n.564G>A | ||
| ENST00000698625.1:c.1320G>A | ENSP00000513844.1:p.Gln440= | |
| ENST00000698626.1:c.1320G>A | ENSP00000513845.1:p.Gln440= | |
| ENST00000698635.1:c.1320G>A | ENSP00000513850.1:p.Gln440= | |
| ENST00000376701.5:c.1320G>A MANE Select | ENSP00000365891.4:p.Gln440= | |
| ENST00000376701.4:c.1320G>A | ENSP00000365891.4:p.Gln440= | |
| ENST00000470107.1:n.29G>A | ||
| NM_000377.2:c.1320G>A , LRG_125t1:c.1320G>A | NP_000368.1:p.Gln440= | |
| XM_011543977.1:c.1164G>A | XP_011542279.1:p.Gln388= | |
| XM_011543977.2:c.1164G>A | XP_011542279.1:p.Gln388= | |
| XM_017029786.1:c.1320G>A | XP_016885275.1:p.Gln440= | |
| NM_000377.3:c.1320G>A MANE Select | NP_000368.1:p.Gln440= |