Linked Data
ClinVar Variation Id:
956297
ClinVar RCV Id:
RCV001229072
dbSNP Id:
rs781999579
ExAC:
X:49111901 C / T
gnomAD v2:
X-49111901-C-T
gnomAD v4:
X-49255440-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49255440C>T , CM000685.2:g.49255440C>T | GRCh38 |
| NC_000023.10:g.49111901C>T , CM000685.1:g.49111901C>T | GRCh37 |
| NC_000023.9:g.48998845C>T | NCBI36 |
| NG_007392.1:g.14388G>A , LRG_62:g.14388G>A | |
| NG_021311.2:g.24976C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376199.7:c.700G>A | ENSP00000365372.2:p.Ala234Thr | |
| ENST00000376207.10:c.805G>A MANE Select | ENSP00000365380.4:p.Ala269Thr | |
| ENST00000455775.7:c.874G>A | ENSP00000396415.3:p.Ala292Thr | |
| ENST00000518685.6:c.735+275G>A | ENSP00000428952.2:n.735+275G>A | |
| ENST00000557224.6:c.700G>A | ENSP00000451208.1:p.Ala234Thr | |
| ENST00000651307.1:c.805G>A | ENSP00000498454.1:p.Ala269Thr | |
| ENST00000376197.1:c.655G>A | ENSP00000365369.1:p.Ala219Thr | |
| ENST00000376199.6:c.700G>A | ENSP00000365372.2:p.Ala234Thr | |
| ENST00000376207.8:c.805G>A | ENSP00000365380.4:p.Ala269Thr | |
| ENST00000455775.6:c.874G>A | ENSP00000396415.3:p.Ala292Thr | |
| ENST00000518685.5:c.700G>A | ENSP00000428952.1:p.Ala234Thr | |
| ENST00000557224.5:c.700G>A | ENSP00000451208.1:p.Ala234Thr | |
| NM_001114377.1:c.700G>A | NP_001107849.1:p.Ala234Thr | |
| NM_014009.3:c.805G>A , LRG_62t1:c.805G>A | NP_054728.2:p.Ala269Thr | |
| XM_006724533.2:c.874G>A | XP_006724596.2:p.Ala292Thr | |
| XM_011543915.1:c.1024G>A | XP_011542217.1:p.Ala342Thr | |
| XM_011543916.1:c.1024G>A | XP_011542218.1:p.Ala342Thr | |
| XM_011543917.1:c.823G>A | XP_011542219.1:p.Ala275Thr | |
| XM_011543918.1:c.1060G>A | XP_011542220.1:p.Ala354Thr | |
| XM_011543919.1:c.1024G>A | XP_011542221.1:p.Ala342Thr | |
| XM_017029567.1:c.751G>A | XP_016885056.1:p.Ala251Thr | |
| NM_001114377.2:c.700G>A | NP_001107849.1:p.Ala234Thr | |
| NM_014009.4:c.805G>A MANE Select | NP_054728.2:p.Ala269Thr |