Linked Data
ClinVar Variation Id:
418234
dbSNP Id:
rs1064793139
gnomAD v2:
X-70443571-G-T
gnomAD v4:
X-71223721-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71223721G>T , CM000685.2:g.71223721G>T | GRCh38 |
| NC_000023.10:g.70443571G>T , CM000685.1:g.70443571G>T | GRCh37 |
| NC_000023.9:g.70360296G>T | NCBI36 |
| NG_008357.1:g.13510G>T , LRG_245:g.13510G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361726.7:c.14G>T MANE Select | ENSP00000354900.6:p.Gly5Val | |
| ENST00000374029.2:c.14G>T | ENSP00000363141.1:p.Gly5Val | |
| ENST00000447581.2:c.14G>T | ENSP00000407223.2:p.Gly5Val | |
| ENST00000645009.2:c.14G>T | ENSP00000494142.2:p.Gly5Val | |
| ENST00000646835.1:c.14G>T | ENSP00000494596.1:p.Gly5Val | |
| ENST00000647424.1:c.14G>T | ENSP00000495960.1:p.Gly5Val | |
| ENST00000674549.1:c.14G>T | ENSP00000502766.1:p.Gly5Val | |
| ENST00000674844.1:c.14G>T | ENSP00000502556.1:p.Gly5Val | |
| ENST00000675209.1:c.14G>T | ENSP00000501813.1:p.Gly5Val | |
| ENST00000675368.1:c.14G>T | ENSP00000501757.1:p.Gly5Val | |
| ENST00000675609.1:c.14G>T | ENSP00000501571.1:p.Gly5Val | |
| ENST00000361726.6:c.14G>T | ENSP00000354900.6:p.Gly5Val | |
| ENST00000374022.3:c.14G>T | ENSP00000363134.3:p.Gly5Val | |
| ENST00000374029.1:c.14G>T | ENSP00000363141.1:p.Gly5Val | |
| ENST00000447581.1:c.14G>T | ENSP00000407223.1:p.Gly5Val | |
| NM_000166.5:c.14G>T | NP_000157.1:p.Gly5Val | |
| NM_001097642.2:c.14G>T , LRG_245t1:c.14G>T | NP_001091111.1:p.Gly5Val | |
| XM_011530907.1:c.14G>T | XP_011529209.1:p.Gly5Val | |
| XM_011530907.2:c.14G>T | XP_011529209.1:p.Gly5Val | |
| NM_000166.6:c.14G>T MANE Select | NP_000157.1:p.Gly5Val | |
| NM_001097642.3:c.14G>T | NP_001091111.1:p.Gly5Val |