Linked Data
ClinVar Variation Id:
11723
ClinVar RCV Id:
RCV000012489
dbSNP Id:
rs122445095
PubMed:
PMID:7697714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77633572C>A , CM000685.2:g.77633572C>A | GRCh38 |
| NC_000023.10:g.76889060C>A , CM000685.1:g.76889060C>A | GRCh37 |
| NC_000023.9:g.76775716C>A | NCBI36 |
| NG_008838.2:g.157650G>T | |
| NG_008838.3:g.157698G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4950G>T MANE Select | ENSP00000362441.4:p.Lys1650Asn | |
| ENST00000675732.1:c.48G>T | ENSP00000502598.1:p.Lys16Asn | |
| ENST00000675908.1:n.685G>T | ||
| ENST00000373344.9:c.4950G>T | ENSP00000362441.4:p.Lys1650Asn | |
| ENST00000395603.7:c.4836G>T | ENSP00000378967.3:p.Lys1612Asn | |
| ENST00000480283.5:c.*4578G>T | ENSP00000480196.1:n.*4578G>T | |
| ENST00000623242.3:c.687G>T | ||
| ENST00000624403.1:n.294G>T | ||
| NM_000489.4:c.4950G>T | NP_000480.3:p.Lys1650Asn | |
| NM_138270.3:c.4836G>T | NP_612114.2:p.Lys1612Asn | |
| XM_005262153.3:c.4947G>T | XP_005262210.2:p.Lys1649Asn | |
| XM_005262154.3:c.4863G>T | XP_005262211.2:p.Lys1621Asn | |
| XM_005262155.3:c.4833G>T | XP_005262212.2:p.Lys1611Asn | |
| XM_005262156.3:c.4785G>T | XP_005262213.2:p.Lys1595Asn | |
| XM_005262157.3:c.4746G>T | XP_005262214.2:p.Lys1582Asn | |
| XM_006724666.2:c.4833G>T | XP_006724729.1:p.Lys1611Asn | |
| XM_006724667.2:c.4671G>T | XP_006724730.1:p.Lys1557Asn | |
| XM_006724668.2:c.4950G>T | XP_006724731.1:p.Lys1650Asn | |
| XR_938400.1:n.5218G>T | ||
| NM_000489.5:c.4950G>T | NP_000480.3:p.Lys1650Asn | |
| XM_005262153.5:c.4947G>T | XP_005262210.2:p.Lys1649Asn | |
| XM_005262154.5:c.4863G>T | XP_005262211.2:p.Lys1621Asn | |
| XM_005262155.4:c.4833G>T | XP_005262212.2:p.Lys1611Asn | |
| XM_005262156.4:c.4785G>T | XP_005262213.2:p.Lys1595Asn | |
| XM_005262157.5:c.4746G>T | XP_005262214.2:p.Lys1582Asn | |
| XM_006724666.4:c.4833G>T | XP_006724729.1:p.Lys1611Asn | |
| XM_006724667.3:c.4671G>T | XP_006724730.1:p.Lys1557Asn | |
| XM_006724668.3:c.4950G>T | XP_006724731.1:p.Lys1650Asn | |
| XM_017029601.2:c.4860G>T | XP_016885090.1:p.Lys1620Asn | |
| XM_017029602.1:c.4830G>T | XP_016885091.1:p.Lys1610Asn | |
| XM_017029603.1:c.4782G>T | XP_016885092.1:p.Lys1594Asn | |
| XM_017029604.2:c.4749G>T | XP_016885093.1:p.Lys1583Asn | |
| XM_017029605.1:c.4746G>T | XP_016885094.1:p.Lys1582Asn | |
| XM_017029606.2:c.4719G>T | XP_016885095.1:p.Lys1573Asn | |
| XM_017029607.2:c.4716G>T | XP_016885096.1:p.Lys1572Asn | |
| XM_017029608.2:c.4668G>T | XP_016885097.1:p.Lys1556Asn | |
| XM_017029609.1:c.4632G>T | XP_016885098.1:p.Lys1544Asn | |
| XM_017029610.1:c.4629G>T | XP_016885099.1:p.Lys1543Asn | |
| XM_017029611.1:c.4584G>T | XP_016885100.1:p.Lys1528Asn | |
| XR_001755700.2:n.5175G>T | ||
| NM_138270.4:c.4836G>T | NP_612114.2:p.Lys1612Asn | |
| NM_000489.6:c.4950G>T MANE Select | NP_000480.3:p.Lys1650Asn | |
| NM_138270.5:c.4836G>T | NP_612114.2:p.Lys1612Asn |