Linked Data
ClinVar Variation Id:
493531
dbSNP Id:
rs1557118764
gnomAD v2:
X-76909656-G-A
gnomAD v4:
X-77654166-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77654166G>A , CM000685.2:g.77654166G>A | GRCh38 |
| NC_000023.10:g.76909656G>A , CM000685.1:g.76909656G>A | GRCh37 |
| NC_000023.9:g.76796312G>A | NCBI36 |
| NG_008838.2:g.137056C>T | |
| NG_008838.3:g.137104C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4249C>T MANE Select | ENSP00000362441.4:p.Arg1417Trp | |
| ENST00000373344.9:c.4249C>T | ENSP00000362441.4:p.Arg1417Trp | |
| ENST00000395603.7:c.4135C>T | ENSP00000378967.3:p.Arg1379Trp | |
| ENST00000480283.5:c.*3877C>T | ENSP00000480196.1:n.*3877C>T | |
| ENST00000624166.3:c.4045C>T | ENSP00000485103.1:p.Arg1349Trp | |
| NM_000489.4:c.4249C>T | NP_000480.3:p.Arg1417Trp | |
| NM_138270.3:c.4135C>T | NP_612114.2:p.Arg1379Trp | |
| XM_005262153.3:c.4246C>T | XP_005262210.2:p.Arg1416Trp | |
| XM_005262154.3:c.4162C>T | XP_005262211.2:p.Arg1388Trp | |
| XM_005262155.3:c.4132C>T | XP_005262212.2:p.Arg1378Trp | |
| XM_005262156.3:c.4084C>T | XP_005262213.2:p.Arg1362Trp | |
| XM_005262157.3:c.4045C>T | XP_005262214.2:p.Arg1349Trp | |
| XM_006724666.2:c.4132C>T | XP_006724729.1:p.Arg1378Trp | |
| XM_006724667.2:c.3970C>T | XP_006724730.1:p.Arg1324Trp | |
| XM_006724668.2:c.4249C>T | XP_006724731.1:p.Arg1417Trp | |
| XR_938400.1:n.4517C>T | ||
| NM_000489.5:c.4249C>T | NP_000480.3:p.Arg1417Trp | |
| XM_005262153.5:c.4246C>T | XP_005262210.2:p.Arg1416Trp | |
| XM_005262154.5:c.4162C>T | XP_005262211.2:p.Arg1388Trp | |
| XM_005262155.4:c.4132C>T | XP_005262212.2:p.Arg1378Trp | |
| XM_005262156.4:c.4084C>T | XP_005262213.2:p.Arg1362Trp | |
| XM_005262157.5:c.4045C>T | XP_005262214.2:p.Arg1349Trp | |
| XM_006724666.4:c.4132C>T | XP_006724729.1:p.Arg1378Trp | |
| XM_006724667.3:c.3970C>T | XP_006724730.1:p.Arg1324Trp | |
| XM_006724668.3:c.4249C>T | XP_006724731.1:p.Arg1417Trp | |
| XM_017029601.2:c.4159C>T | XP_016885090.1:p.Arg1387Trp | |
| XM_017029602.1:c.4129C>T | XP_016885091.1:p.Arg1377Trp | |
| XM_017029603.1:c.4081C>T | XP_016885092.1:p.Arg1361Trp | |
| XM_017029604.2:c.4048C>T | XP_016885093.1:p.Arg1350Trp | |
| XM_017029605.1:c.4045C>T | XP_016885094.1:p.Arg1349Trp | |
| XM_017029606.2:c.4018C>T | XP_016885095.1:p.Arg1340Trp | |
| XM_017029607.2:c.4015C>T | XP_016885096.1:p.Arg1339Trp | |
| XM_017029608.2:c.3967C>T | XP_016885097.1:p.Arg1323Trp | |
| XM_017029609.1:c.3931C>T | XP_016885098.1:p.Arg1311Trp | |
| XM_017029610.1:c.3928C>T | XP_016885099.1:p.Arg1310Trp | |
| XM_017029611.1:c.3883C>T | XP_016885100.1:p.Arg1295Trp | |
| XR_001755700.2:n.4474C>T | ||
| NM_138270.4:c.4135C>T | NP_612114.2:p.Arg1379Trp | |
| NM_000489.6:c.4249C>T MANE Select | NP_000480.3:p.Arg1417Trp | |
| NM_138270.5:c.4135C>T | NP_612114.2:p.Arg1379Trp |