Linked Data
ClinVar Variation Id:
2917765
ClinVar RCV Id:
RCV003653064
dbSNP Id:
rs774432010
ExAC:
X:111000965 C / T
gnomAD v2:
X-111000965-C-T
gnomAD v4:
X-111757737-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.111757737C>T , CM000685.2:g.111757737C>T | GRCh38 |
| NC_000023.10:g.111000965C>T , CM000685.1:g.111000965C>T | GRCh37 |
| NC_000023.9:g.110887621C>T | NCBI36 |
| NG_016238.1:g.81620C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623622.2:c.2712C>T | ENSP00000485624.2:p.Gly904= | |
| ENST00000699748.1:c.*2681C>T | ENSP00000514558.1:n.*2681C>T | |
| ENST00000699778.1:c.1892C>T | ENSP00000514584.1:n.1892C>T | |
| ENST00000394780.8:c.3123C>T MANE Select | ENSP00000378260.3:p.Gly1041= | |
| ENST00000636363.1:c.*1674C>T | ENSP00000490681.1:n.*1674C>T | |
| ENST00000251943.8:c.2574C>T | ENSP00000251943.4:p.Gly858= | |
| ENST00000394780.7:c.3123C>T | ENSP00000378260.3:p.Gly1041= | |
| ENST00000436609.5:c.2574C>T | ENSP00000392990.2:p.Gly858= | |
| ENST00000461669.5:n.246C>T | ||
| ENST00000470971.5:c.*2115C>T | ENSP00000479424.2:n.*2115C>T | |
| ENST00000485371.1:n.235C>T | ||
| ENST00000487243.1:n.460C>T | ||
| ENST00000495283.5:c.*2751C>T | ENSP00000427093.3:n.*2751C>T | |
| ENST00000610588.4:c.2889C>T | ENSP00000479731.1:p.Gly963= | |
| ENST00000621367.4:c.2574C>T | ENSP00000481509.1:p.Gly858= | |
| ENST00000623144.3:c.*2855C>T | ENSP00000485279.1:n.*2855C>T | |
| ENST00000623148.3:c.3141C>T | ENSP00000485658.1:n.3141C>T | |
| ENST00000624161.3:c.*2650C>T | ENSP00000485181.1:n.*2650C>T | |
| NM_001099922.2:c.3123C>T | NP_001093392.1:p.Gly1041= | |
| NM_001257230.1:c.2574C>T | NP_001244159.1:p.Gly858= | |
| NM_001257231.1:c.2889C>T | NP_001244160.1:p.Gly963= | |
| NM_001257234.1:c.2574C>T | NP_001244163.1:p.Gly858= | |
| NM_001257237.1:c.2574C>T | NP_001244166.1:p.Gly858= | |
| XM_006724693.2:c.3084C>T | XP_006724756.1:p.Gly1028= | |
| XM_006724695.2:c.2886C>T | XP_006724758.1:p.Gly962= | |
| XM_006724697.2:c.2883C>T | XP_006724760.2:p.Gly961= | |
| XM_006724698.2:c.2883C>T | XP_006724761.2:p.Gly961= | |
| XM_011531028.1:c.3195C>T | XP_011529330.1:p.Gly1065= | |
| XM_011531029.1:c.3024C>T | XP_011529331.1:p.Gly1008= | |
| XM_011531030.1:c.2958C>T | XP_011529332.1:p.Gly986= | |
| XM_011531031.1:c.2883C>T | XP_011529333.1:p.Gly961= | |
| XM_011531032.1:c.2883C>T | XP_011529334.1:p.Gly961= | |
| XM_011531033.1:c.2883C>T | XP_011529335.1:p.Gly961= | |
| XM_011531034.1:c.2586C>T | XP_011529336.1:p.Gly862= | |
| XM_011531035.1:c.2391C>T | XP_011529337.1:p.Gly797= | |
| XM_011531036.1:c.1740C>T | XP_011529338.1:p.Gly580= | |
| XM_011531037.1:c.1719C>T | XP_011529339.1:p.Gly573= | |
| NM_001324292.1:c.2886C>T | NP_001311221.1:p.Gly962= | |
| NM_001324293.1:c.2400C>T | NP_001311222.1:p.Gly800= | |
| NR_148693.1:n.2666C>T | ||
| XM_006724693.3:c.3084C>T | XP_006724756.1:p.Gly1028= | |
| XM_006724697.3:c.2883C>T | XP_006724760.2:p.Gly961= | |
| XM_006724698.3:c.2883C>T | XP_006724761.2:p.Gly961= | |
| XM_011531028.2:c.3195C>T | XP_011529330.1:p.Gly1065= | |
| XM_011531030.2:c.2958C>T | XP_011529332.1:p.Gly986= | |
| XM_011531033.3:c.2883C>T | XP_011529335.1:p.Gly961= | |
| XM_011531034.2:c.2586C>T | XP_011529336.1:p.Gly862= | |
| XM_017029846.1:c.3171C>T | XP_016885335.1:p.Gly1057= | |
| XM_017029847.1:c.3156C>T | XP_016885336.1:p.Gly1052= | |
| XM_017029848.1:c.2862C>T | XP_016885337.1:p.Gly954= | |
| XM_017029851.1:c.2391C>T | XP_016885340.1:p.Gly797= | |
| XM_017029852.1:c.2226C>T | XP_016885341.1:p.Gly742= | |
| XM_017029853.1:c.1740C>T | XP_016885342.1:p.Gly580= | |
| XM_017029854.2:c.1551C>T | XP_016885343.1:p.Gly517= | |
| XM_017029855.1:c.1431C>T | XP_016885344.1:p.Gly477= | |
| NM_001099922.3:c.3123C>T MANE Select | NP_001093392.1:p.Gly1041= | |
| NM_001257230.2:c.2574C>T | NP_001244159.1:p.Gly858= | |
| NM_001324292.2:c.2886C>T | NP_001311221.1:p.Gly962= | |
| NR_148693.2:n.2614C>T | ||
| NM_001257231.2:c.2889C>T | NP_001244160.1:p.Gly963= | |
| NM_001257234.2:c.2574C>T | NP_001244163.1:p.Gly858= | |
| NM_001257237.2:c.2574C>T | NP_001244166.1:p.Gly858= |