Linked Data
ClinVar Variation Id:
529770
ClinVar RCV Id:
RCV001446586
dbSNP Id:
rs142994383
ExAC:
X:49114933 C / T
gnomAD v2:
X-49114933-C-T
gnomAD v3:
X-49258476-C-T
gnomAD v4:
X-49258476-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49258476C>T , CM000685.2:g.49258476C>T | GRCh38 |
| NC_000023.10:g.49114933C>T , CM000685.1:g.49114933C>T | GRCh37 |
| NC_000023.9:g.49001877C>T | NCBI36 |
| NG_007392.1:g.11356G>A , LRG_62:g.11356G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703450.1:c.30G>A | ENSP00000515301.1:p.Ser10= | |
| ENST00000684155.1:c.30G>A | ENSP00000507726.1:p.Ser10= | |
| ENST00000376199.7:c.30G>A | ENSP00000365372.2:p.Ser10= | |
| ENST00000376207.10:c.30G>A MANE Select | ENSP00000365380.4:p.Ser10= | |
| ENST00000455775.7:c.30G>A | ENSP00000396415.3:p.Ser10= | |
| ENST00000518685.6:c.30G>A | ENSP00000428952.2:p.Ser10= | |
| ENST00000557224.6:c.30G>A | ENSP00000451208.1:p.Ser10= | |
| ENST00000650877.1:c.30G>A | ENSP00000499100.1:p.Ser10= | |
| ENST00000651307.1:c.30G>A | ENSP00000498454.1:p.Ser10= | |
| ENST00000652559.1:c.30G>A | ENSP00000498236.1:p.Ser10= | |
| ENST00000376197.1:c.17-32G>A | ENSP00000365369.1:n.17-32G>A | |
| ENST00000376199.6:c.30G>A | ENSP00000365372.2:p.Ser10= | |
| ENST00000376207.8:c.30G>A | ENSP00000365380.4:p.Ser10= | |
| ENST00000455775.6:c.30G>A | ENSP00000396415.3:p.Ser10= | |
| ENST00000518685.5:c.30G>A | ENSP00000428952.1:p.Ser10= | |
| ENST00000557224.5:c.30G>A | ENSP00000451208.1:p.Ser10= | |
| NM_001114377.1:c.30G>A | NP_001107849.1:p.Ser10= | |
| NM_014009.3:c.30G>A , LRG_62t1:c.30G>A | NP_054728.2:p.Ser10= | |
| XM_006724533.2:c.30G>A | XP_006724596.2:p.Ser10= | |
| XM_011543915.1:c.354G>A | XP_011542217.1:p.Ser118= | |
| XM_011543916.1:c.354G>A | XP_011542218.1:p.Ser118= | |
| XM_011543917.1:c.30G>A | XP_011542219.1:p.Ser10= | |
| XM_011543918.1:c.354G>A | XP_011542220.1:p.Ser118= | |
| XM_011543919.1:c.354G>A | XP_011542221.1:p.Ser118= | |
| XM_017029567.1:c.81G>A | XP_016885056.1:p.Ser27= | |
| NM_001114377.2:c.30G>A | NP_001107849.1:p.Ser10= | |
| NM_014009.4:c.30G>A MANE Select | NP_054728.2:p.Ser10= |