Linked Data
ClinVar Variation Id:
529768
ClinVar RCV Id:
RCV000635247
dbSNP Id:
rs369698589
ExAC:
X:49111933 G / A
gnomAD v2:
X-49111933-G-A
gnomAD v3:
X-49255472-G-A
gnomAD v4:
X-49255472-G-A
COSMIC:
COSM4794811
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49255472G>A , CM000685.2:g.49255472G>A | GRCh38 |
| NC_000023.10:g.49111933G>A , CM000685.1:g.49111933G>A | GRCh37 |
| NC_000023.9:g.48998877G>A | NCBI36 |
| NG_007392.1:g.14356C>T , LRG_62:g.14356C>T | |
| NG_021311.2:g.25008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376199.7:c.668C>T | ENSP00000365372.2:p.Ala223Val | |
| ENST00000376207.10:c.773C>T MANE Select | ENSP00000365380.4:p.Ala258Val | |
| ENST00000455775.7:c.842C>T | ENSP00000396415.3:p.Ala281Val | |
| ENST00000518685.6:c.735+243C>T | ENSP00000428952.2:n.735+243C>T | |
| ENST00000557224.6:c.668C>T | ENSP00000451208.1:p.Ala223Val | |
| ENST00000651307.1:c.773C>T | ENSP00000498454.1:p.Ala258Val | |
| ENST00000376197.1:c.623C>T | ENSP00000365369.1:p.Ala208Val | |
| ENST00000376199.6:c.668C>T | ENSP00000365372.2:p.Ala223Val | |
| ENST00000376207.8:c.773C>T | ENSP00000365380.4:p.Ala258Val | |
| ENST00000455775.6:c.842C>T | ENSP00000396415.3:p.Ala281Val | |
| ENST00000518685.5:c.668C>T | ENSP00000428952.1:p.Ala223Val | |
| ENST00000557224.5:c.668C>T | ENSP00000451208.1:p.Ala223Val | |
| NM_001114377.1:c.668C>T | NP_001107849.1:p.Ala223Val | |
| NM_014009.3:c.773C>T , LRG_62t1:c.773C>T | NP_054728.2:p.Ala258Val | |
| XM_006724533.2:c.842C>T | XP_006724596.2:p.Ala281Val | |
| XM_011543915.1:c.992C>T | XP_011542217.1:p.Ala331Val | |
| XM_011543916.1:c.992C>T | XP_011542218.1:p.Ala331Val | |
| XM_011543917.1:c.791C>T | XP_011542219.1:p.Ala264Val | |
| XM_011543918.1:c.1028C>T | XP_011542220.1:p.Ala343Val | |
| XM_011543919.1:c.992C>T | XP_011542221.1:p.Ala331Val | |
| XM_017029567.1:c.719C>T | XP_016885056.1:p.Ala240Val | |
| NM_001114377.2:c.668C>T | NP_001107849.1:p.Ala223Val | |
| NM_014009.4:c.773C>T MANE Select | NP_054728.2:p.Ala258Val |