Linked Data
ClinVar Variation Id:
11407
dbSNP Id:
rs28935477
gnomAD v2:
X-49107902-G-A
gnomAD v3:
X-49251441-G-A
gnomAD v4:
X-49251441-G-A
COSMIC:
COSM757063
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49251441G>A , CM000685.2:g.49251441G>A | GRCh38 |
| NC_000023.10:g.49107902G>A , CM000685.1:g.49107902G>A | GRCh37 |
| NC_000023.9:g.48994846G>A | NCBI36 |
| NG_007392.1:g.18387C>T , LRG_62:g.18387C>T | |
| NG_021311.2:g.20977G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376199.7:c.1084C>T | ENSP00000365372.2:p.Arg362Trp | |
| ENST00000376207.10:c.1189C>T MANE Select | ENSP00000365380.4:p.Arg397Trp | |
| ENST00000455775.7:c.1258C>T | ENSP00000396415.3:p.Arg420Trp | |
| ENST00000518685.6:c.1108C>T | ENSP00000428952.2:p.Arg370Trp | |
| ENST00000557224.6:c.1264C>T | ENSP00000451208.1:p.Arg422Trp | |
| ENST00000651307.1:c.*104C>T | ENSP00000498454.1:n.*104C>T | |
| ENST00000376197.1:c.1219C>T | ENSP00000365369.1:p.Arg407Trp | |
| ENST00000376199.6:c.1084C>T | ENSP00000365372.2:p.Arg362Trp | |
| ENST00000376207.8:c.1189C>T | ENSP00000365380.4:p.Arg397Trp | |
| ENST00000455775.6:c.1258C>T | ENSP00000396415.3:p.Arg420Trp | |
| ENST00000518685.5:c.1084C>T | ENSP00000428952.1:p.Arg362Trp | |
| ENST00000557224.5:c.1264C>T | ENSP00000451208.1:p.Arg422Trp | |
| NM_001114377.1:c.1084C>T | NP_001107849.1:p.Arg362Trp | |
| NM_014009.3:c.1189C>T , LRG_62t1:c.1189C>T | NP_054728.2:p.Arg397Trp | |
| XM_006724533.2:c.1258C>T | XP_006724596.2:p.Arg420Trp | |
| XM_011543915.1:c.1588C>T | XP_011542217.1:p.Arg530Trp | |
| XM_011543916.1:c.1588C>T | XP_011542218.1:p.Arg530Trp | |
| XM_011543917.1:c.1207C>T | XP_011542219.1:p.Arg403Trp | |
| XM_011543918.1:c.1444C>T | XP_011542220.1:p.Arg482Trp | |
| XM_011543919.1:c.1408C>T | XP_011542221.1:p.Arg470Trp | |
| XM_017029567.1:c.1315C>T | XP_016885056.1:p.Arg439Trp | |
| NM_001114377.2:c.1084C>T | NP_001107849.1:p.Arg362Trp | |
| NM_014009.4:c.1189C>T MANE Select | NP_054728.2:p.Arg397Trp |