Linked Data
ClinVar Variation Id:
2130676
ClinVar RCV Id:
RCV003044649
dbSNP Id:
rs772076629
ExAC:
X:18622232 T / A
gnomAD v2:
X-18622232-T-A
gnomAD v4:
X-18604112-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18604112T>A , CM000685.2:g.18604112T>A | GRCh38 |
| NC_000023.10:g.18622232T>A , CM000685.1:g.18622232T>A | GRCh37 |
| NC_000023.9:g.18532153T>A | NCBI36 |
| NG_008475.1:g.183508T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.1188T>A MANE Select | ENSP00000485244.1:p.Asp396Glu | |
| ENST00000635828.1:c.1188T>A | ENSP00000490170.1:p.Asp396Glu | |
| ENST00000637881.1:c.1188T>A | ENSP00000489879.1:p.Asp396Glu | |
| ENST00000674046.1:c.1188T>A | ENSP00000501174.1:p.Asp396Glu | |
| ENST00000379989.6:c.1188T>A | ENSP00000369325.3:p.Asp396Glu | |
| ENST00000379996.7:c.1188T>A | ENSP00000369332.3:p.Asp396Glu | |
| ENST00000463994.4:c.1188T>A | ENSP00000485184.1:p.Asp396Glu | |
| ENST00000623535.1:c.1188T>A | ENSP00000485244.1:p.Asp396Glu | |
| NM_001037343.1:c.1188T>A | NP_001032420.1:p.Asp396Glu | |
| NM_003159.2:c.1188T>A | NP_003150.1:p.Asp396Glu | |
| XM_011545569.1:c.1137T>A | XP_011543871.1:p.Asp379Glu | |
| XM_011545570.1:c.1056T>A | XP_011543872.1:p.Asp352Glu | |
| XR_950484.1:n.1440T>A | ||
| NM_001323289.1:c.1188T>A | NP_001310218.1:p.Asp396Glu | |
| NM_001323289.2:c.1188T>A MANE Select | NP_001310218.1:p.Asp396Glu | |
| NM_001037343.2:c.1188T>A | NP_001032420.1:p.Asp396Glu | |
| NM_003159.3:c.1188T>A | NP_003150.1:p.Asp396Glu |