Linked Data
ClinVar Variation Id:
11739
dbSNP Id:
rs122445106
ExAC:
X:76889148 G / A
gnomAD v2:
X-76889148-G-A
gnomAD v4:
X-77633660-G-A
PubMed:
PMID:12116232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77633660G>A , CM000685.2:g.77633660G>A | GRCh38 |
| NC_000023.10:g.76889148G>A , CM000685.1:g.76889148G>A | GRCh37 |
| NC_000023.9:g.76775804G>A | NCBI36 |
| NG_008838.2:g.157562C>T | |
| NG_008838.3:g.157610C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4862C>T MANE Select | ENSP00000362441.4:p.Thr1621Met | |
| ENST00000675732.1:c.-41C>T | ENSP00000502598.1:n.-41C>T | |
| ENST00000675908.1:n.597C>T | ||
| ENST00000373344.9:c.4862C>T | ENSP00000362441.4:p.Thr1621Met | |
| ENST00000395603.7:c.4748C>T | ENSP00000378967.3:p.Thr1583Met | |
| ENST00000480283.5:c.*4490C>T | ENSP00000480196.1:n.*4490C>T | |
| ENST00000623242.3:c.599C>T | ||
| ENST00000624403.1:n.206C>T | ||
| NM_000489.4:c.4862C>T | NP_000480.3:p.Thr1621Met | |
| NM_138270.3:c.4748C>T | NP_612114.2:p.Thr1583Met | |
| XM_005262153.3:c.4859C>T | XP_005262210.2:p.Thr1620Met | |
| XM_005262154.3:c.4775C>T | XP_005262211.2:p.Thr1592Met | |
| XM_005262155.3:c.4745C>T | XP_005262212.2:p.Thr1582Met | |
| XM_005262156.3:c.4697C>T | XP_005262213.2:p.Thr1566Met | |
| XM_005262157.3:c.4658C>T | XP_005262214.2:p.Thr1553Met | |
| XM_006724666.2:c.4745C>T | XP_006724729.1:p.Thr1582Met | |
| XM_006724667.2:c.4583C>T | XP_006724730.1:p.Thr1528Met | |
| XM_006724668.2:c.4862C>T | XP_006724731.1:p.Thr1621Met | |
| XR_938400.1:n.5130C>T | ||
| NM_000489.5:c.4862C>T | NP_000480.3:p.Thr1621Met | |
| XM_005262153.5:c.4859C>T | XP_005262210.2:p.Thr1620Met | |
| XM_005262154.5:c.4775C>T | XP_005262211.2:p.Thr1592Met | |
| XM_005262155.4:c.4745C>T | XP_005262212.2:p.Thr1582Met | |
| XM_005262156.4:c.4697C>T | XP_005262213.2:p.Thr1566Met | |
| XM_005262157.5:c.4658C>T | XP_005262214.2:p.Thr1553Met | |
| XM_006724666.4:c.4745C>T | XP_006724729.1:p.Thr1582Met | |
| XM_006724667.3:c.4583C>T | XP_006724730.1:p.Thr1528Met | |
| XM_006724668.3:c.4862C>T | XP_006724731.1:p.Thr1621Met | |
| XM_017029601.2:c.4772C>T | XP_016885090.1:p.Thr1591Met | |
| XM_017029602.1:c.4742C>T | XP_016885091.1:p.Thr1581Met | |
| XM_017029603.1:c.4694C>T | XP_016885092.1:p.Thr1565Met | |
| XM_017029604.2:c.4661C>T | XP_016885093.1:p.Thr1554Met | |
| XM_017029605.1:c.4658C>T | XP_016885094.1:p.Thr1553Met | |
| XM_017029606.2:c.4631C>T | XP_016885095.1:p.Thr1544Met | |
| XM_017029607.2:c.4628C>T | XP_016885096.1:p.Thr1543Met | |
| XM_017029608.2:c.4580C>T | XP_016885097.1:p.Thr1527Met | |
| XM_017029609.1:c.4544C>T | XP_016885098.1:p.Thr1515Met | |
| XM_017029610.1:c.4541C>T | XP_016885099.1:p.Thr1514Met | |
| XM_017029611.1:c.4496C>T | XP_016885100.1:p.Thr1499Met | |
| XR_001755700.2:n.5087C>T | ||
| NM_138270.4:c.4748C>T | NP_612114.2:p.Thr1583Met | |
| NM_000489.6:c.4862C>T MANE Select | NP_000480.3:p.Thr1621Met | |
| NM_138270.5:c.4748C>T | NP_612114.2:p.Thr1583Met |