Linked Data
ClinVar Variation Id:
1140940
ClinVar RCV Id:
RCV001478219
dbSNP Id:
rs143565005
ExAC:
X:15349615 C / G
gnomAD v2:
X-15349615-C-G
gnomAD v3:
X-15331493-C-G
gnomAD v4:
X-15331493-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15331493C>G , CM000685.2:g.15331493C>G | GRCh38 |
| NC_000023.10:g.15349615C>G , CM000685.1:g.15349615C>G | GRCh37 |
| NC_000023.9:g.15259536C>G | NCBI36 |
| NG_009786.1:g.9046G>C , LRG_160:g.9046G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333590.6:c.438G>C MANE Select | ENSP00000369820.3:p.Gly146= | |
| ENST00000637296.1:c.-314-194G>C | ENSP00000490545.1:n.-314-194G>C | |
| ENST00000637626.1:c.438G>C | ENSP00000489928.1:p.Gly146= | |
| ENST00000638131.1:c.111+327G>C | ENSP00000490483.1:n.111+327G>C | |
| ENST00000333590.5:c.438G>C | ENSP00000369820.3:p.Gly146= | |
| ENST00000474662.2:n.142+381G>C | ||
| ENST00000482148.6:c.341+97G>C | ENSP00000489528.1:n.341+97G>C | |
| ENST00000542278.6:c.438G>C | ENSP00000442653.2:p.Gly146= | |
| ENST00000634286.1:c.134+97G>C | ENSP00000489491.1:n.134+97G>C | |
| ENST00000634582.1:c.13+4008G>C | ENSP00000489540.1:n.13+4008G>C | |
| ENST00000634640.1:c.-231+381G>C | ENSP00000489083.1:n.-231+381G>C | |
| ENST00000635045.1:n.523G>C | ||
| ENST00000635543.1:c.438G>C | ENSP00000489205.1:p.Gly146= | |
| ENST00000635598.1:c.341+97G>C | ENSP00000489207.1:n.341+97G>C | |
| NM_002641.3:c.438G>C , LRG_160t1:c.438G>C | NP_002632.1:p.Gly146= | |
| NM_020473.3:c.13+4008G>C | NP_065206.3:n.13+4008G>C | |
| NR_033835.1:n.457+97G>C | ||
| NR_033836.1:n.173+381G>C | ||
| NM_002641.4:c.438G>C MANE Select | NP_002632.1:p.Gly146= |