Linked Data
ClinVar Variation Id:
1131861
ClinVar RCV Id:
RCV001465905
dbSNP Id:
rs782411810
ExAC:
X:149809783 G / A
gnomAD v2:
X-149809783-G-A
gnomAD v4:
X-150641310-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150641310G>A , CM000685.2:g.150641310G>A | GRCh38 |
| NC_000023.10:g.149809783G>A , CM000685.1:g.149809783G>A | GRCh37 |
| NC_000023.9:g.149560441G>A | NCBI36 |
| NG_008199.1:g.77737G>A , LRG_839:g.77737G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684910.1:c.*103G>A | ENSP00000509844.1:n.*103G>A | |
| ENST00000685439.1:c.225G>A | ENSP00000508454.1:p.Lys75= | |
| ENST00000685944.1:c.570G>A | ENSP00000509266.1:p.Lys190= | |
| ENST00000686212.1:n.172G>A | ||
| ENST00000687215.1:c.*325G>A | ENSP00000509706.1:n.*325G>A | |
| ENST00000688152.1:c.*14G>A | ENSP00000509360.1:n.*14G>A | |
| ENST00000688403.1:c.-175G>A | ENSP00000508944.1:n.-175G>A | |
| ENST00000689314.1:c.615G>A | ENSP00000510607.1:p.Lys205= | |
| ENST00000689694.1:c.570G>A | ENSP00000508718.1:p.Lys190= | |
| ENST00000689810.1:c.*219G>A | ENSP00000510635.1:n.*219G>A | |
| ENST00000690282.1:c.-175G>A | ENSP00000509809.1:n.-175G>A | |
| ENST00000690351.1:c.*222G>A | ENSP00000509728.1:n.*222G>A | |
| ENST00000691232.1:c.225G>A | ENSP00000509675.1:p.Lys75= | |
| ENST00000691482.1:n.1585G>A | ||
| ENST00000691686.1:c.570G>A | ENSP00000509784.1:p.Lys190= | |
| ENST00000691851.1:c.570G>A | ENSP00000510106.1:p.Lys190= | |
| ENST00000692015.1:c.357G>A | ENSP00000510634.1:p.Lys119= | |
| ENST00000692638.1:c.*375G>A | ENSP00000509412.1:n.*375G>A | |
| ENST00000692852.1:c.570G>A | ENSP00000510337.1:p.Lys190= | |
| ENST00000692915.1:c.*777G>A | ENSP00000508547.1:n.*777G>A | |
| ENST00000370396.7:c.570G>A MANE Select | ENSP00000359423.3:p.Lys190= | |
| ENST00000306167.11:n.437G>A | ||
| ENST00000370396.6:c.570G>A | ENSP00000359423.2:p.Lys190= | |
| ENST00000490530.1:n.509G>A | ||
| NM_000252.2:c.570G>A , LRG_839t1:c.570G>A | NP_000243.1:p.Lys190= | |
| XM_005274687.2:c.570G>A | XP_005274744.1:p.Lys190= | |
| XM_011531170.1:c.636G>A | XP_011529472.1:p.Lys212= | |
| XM_011531171.1:c.615G>A | XP_011529473.1:p.Lys205= | |
| XM_011531172.1:c.615G>A | XP_011529474.1:p.Lys205= | |
| XM_011531173.1:c.570G>A | XP_011529475.1:p.Lys190= | |
| XM_011531173.2:c.570G>A | XP_011529475.1:p.Lys190= | |
| XM_017029547.1:c.615G>A | XP_016885036.1:p.Lys205= | |
| XM_017029548.1:c.615G>A | XP_016885037.1:p.Lys205= | |
| XM_017029549.1:c.570G>A | XP_016885038.1:p.Lys190= | |
| XM_017029550.1:c.459G>A | XP_016885039.1:p.Lys153= | |
| XM_017029551.2:c.-175G>A | XP_016885040.1:n.-175G>A | |
| NM_000252.3:c.570G>A MANE Select | NP_000243.1:p.Lys190= | |
| NM_001376906.1:c.570G>A | NP_001363835.1:p.Lys190= | |
| NM_001376907.1:c.459G>A | NP_001363836.1:p.Lys153= | |
| NM_001376908.1:c.570G>A | NP_001363837.1:p.Lys190= |