Linked Data
ClinVar Variation Id:
210496
ClinVar RCV Id:
RCV000195180
dbSNP Id:
rs782533736
gnomAD v4:
X-77652188-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77652188T>A , CM000685.2:g.77652188T>A | GRCh38 |
| NC_000023.10:g.76907678T>A , CM000685.1:g.76907678T>A | GRCh37 |
| NC_000023.9:g.76794334T>A | NCBI36 |
| NG_008838.2:g.139034A>T | |
| NG_008838.3:g.139082A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4483A>T MANE Select | ENSP00000362441.4:p.Asn1495Tyr | |
| ENST00000373344.9:c.4483A>T | ENSP00000362441.4:p.Asn1495Tyr | |
| ENST00000395603.7:c.4369A>T | ENSP00000378967.3:p.Asn1457Tyr | |
| ENST00000480283.5:c.*4111A>T | ENSP00000480196.1:n.*4111A>T | |
| ENST00000623242.3:c.89A>T | ||
| NM_000489.4:c.4483A>T | NP_000480.3:p.Asn1495Tyr | |
| NM_138270.3:c.4369A>T | NP_612114.2:p.Asn1457Tyr | |
| XM_005262153.3:c.4480A>T | XP_005262210.2:p.Asn1494Tyr | |
| XM_005262154.3:c.4396A>T | XP_005262211.2:p.Asn1466Tyr | |
| XM_005262155.3:c.4366A>T | XP_005262212.2:p.Asn1456Tyr | |
| XM_005262156.3:c.4318A>T | XP_005262213.2:p.Asn1440Tyr | |
| XM_005262157.3:c.4279A>T | XP_005262214.2:p.Asn1427Tyr | |
| XM_006724666.2:c.4366A>T | XP_006724729.1:p.Asn1456Tyr | |
| XM_006724667.2:c.4204A>T | XP_006724730.1:p.Asn1402Tyr | |
| XM_006724668.2:c.4483A>T | XP_006724731.1:p.Asn1495Tyr | |
| XR_938400.1:n.4751A>T | ||
| NM_000489.5:c.4483A>T | NP_000480.3:p.Asn1495Tyr | |
| XM_005262153.5:c.4480A>T | XP_005262210.2:p.Asn1494Tyr | |
| XM_005262154.5:c.4396A>T | XP_005262211.2:p.Asn1466Tyr | |
| XM_005262155.4:c.4366A>T | XP_005262212.2:p.Asn1456Tyr | |
| XM_005262156.4:c.4318A>T | XP_005262213.2:p.Asn1440Tyr | |
| XM_005262157.5:c.4279A>T | XP_005262214.2:p.Asn1427Tyr | |
| XM_006724666.4:c.4366A>T | XP_006724729.1:p.Asn1456Tyr | |
| XM_006724667.3:c.4204A>T | XP_006724730.1:p.Asn1402Tyr | |
| XM_006724668.3:c.4483A>T | XP_006724731.1:p.Asn1495Tyr | |
| XM_017029601.2:c.4393A>T | XP_016885090.1:p.Asn1465Tyr | |
| XM_017029602.1:c.4363A>T | XP_016885091.1:p.Asn1455Tyr | |
| XM_017029603.1:c.4315A>T | XP_016885092.1:p.Asn1439Tyr | |
| XM_017029604.2:c.4282A>T | XP_016885093.1:p.Asn1428Tyr | |
| XM_017029605.1:c.4279A>T | XP_016885094.1:p.Asn1427Tyr | |
| XM_017029606.2:c.4252A>T | XP_016885095.1:p.Asn1418Tyr | |
| XM_017029607.2:c.4249A>T | XP_016885096.1:p.Asn1417Tyr | |
| XM_017029608.2:c.4201A>T | XP_016885097.1:p.Asn1401Tyr | |
| XM_017029609.1:c.4165A>T | XP_016885098.1:p.Asn1389Tyr | |
| XM_017029610.1:c.4162A>T | XP_016885099.1:p.Asn1388Tyr | |
| XM_017029611.1:c.4117A>T | XP_016885100.1:p.Asn1373Tyr | |
| XR_001755700.2:n.4708A>T | ||
| NM_138270.4:c.4369A>T | NP_612114.2:p.Asn1457Tyr | |
| NM_000489.6:c.4483A>T MANE Select | NP_000480.3:p.Asn1495Tyr | |
| NM_138270.5:c.4369A>T | NP_612114.2:p.Asn1457Tyr |