Linked Data
ClinVar Variation Id:
1406786
ClinVar RCV Id:
RCV001915989
dbSNP Id:
rs1922154798
gnomAD v3:
X-15331531-T-C
gnomAD v4:
X-15331531-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15331531T>C , CM000685.2:g.15331531T>C | GRCh38 |
| NC_000023.10:g.15349653T>C , CM000685.1:g.15349653T>C | GRCh37 |
| NC_000023.9:g.15259574T>C | NCBI36 |
| NG_009786.1:g.9008A>G , LRG_160:g.9008A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333590.6:c.400A>G MANE Select | ENSP00000369820.3:p.Met134Val | |
| ENST00000637296.1:c.-314-232A>G | ENSP00000490545.1:n.-314-232A>G | |
| ENST00000637626.1:c.400A>G | ENSP00000489928.1:p.Met134Val | |
| ENST00000638131.1:c.111+289A>G | ENSP00000490483.1:n.111+289A>G | |
| ENST00000333590.5:c.400A>G | ENSP00000369820.3:p.Met134Val | |
| ENST00000474662.2:n.142+343A>G | ||
| ENST00000482148.6:c.341+59A>G | ENSP00000489528.1:n.341+59A>G | |
| ENST00000542278.6:c.400A>G | ENSP00000442653.2:p.Met134Val | |
| ENST00000634286.1:c.134+59A>G | ENSP00000489491.1:n.134+59A>G | |
| ENST00000634582.1:c.13+3970A>G | ENSP00000489540.1:n.13+3970A>G | |
| ENST00000634640.1:c.-231+343A>G | ENSP00000489083.1:n.-231+343A>G | |
| ENST00000635045.1:n.485A>G | ||
| ENST00000635543.1:c.400A>G | ENSP00000489205.1:p.Met134Val | |
| ENST00000635598.1:c.341+59A>G | ENSP00000489207.1:n.341+59A>G | |
| NM_002641.3:c.400A>G , LRG_160t1:c.400A>G | NP_002632.1:p.Met134Val | |
| NM_020473.3:c.13+3970A>G | NP_065206.3:n.13+3970A>G | |
| NR_033835.1:n.457+59A>G | ||
| NR_033836.1:n.173+343A>G | ||
| NM_002641.4:c.400A>G MANE Select | NP_002632.1:p.Met134Val |