Linked Data
ClinVar Variation Id:
11725
ClinVar RCV Id:
RCV000012491
dbSNP Id:
rs122445096
PubMed:
PMID:7697714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77593702T>A , CM000685.2:g.77593702T>A | GRCh38 |
| NC_000023.10:g.76849172T>A , CM000685.1:g.76849172T>A | GRCh37 |
| NC_000023.9:g.76735828T>A | NCBI36 |
| NG_008838.2:g.197520A>T | |
| NG_008838.3:g.197568A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.6104A>T MANE Select | ENSP00000362441.4:p.Asp2035Val | |
| ENST00000675732.1:c.1202A>T | ENSP00000502598.1:p.Asp401Val | |
| ENST00000373344.9:c.6104A>T | ENSP00000362441.4:p.Asp2035Val | |
| ENST00000395603.7:c.5990A>T | ENSP00000378967.3:p.Asp1997Val | |
| ENST00000480283.5:c.*5732A>T | ENSP00000480196.1:n.*5732A>T | |
| ENST00000623316.1:c.588A>T | ||
| ENST00000623706.3:n.3174A>T | ||
| NM_000489.4:c.6104A>T | NP_000480.3:p.Asp2035Val | |
| NM_138270.3:c.5990A>T | NP_612114.2:p.Asp1997Val | |
| XM_005262153.3:c.6101A>T | XP_005262210.2:p.Asp2034Val | |
| XM_005262154.3:c.6017A>T | XP_005262211.2:p.Asp2006Val | |
| XM_005262155.3:c.5987A>T | XP_005262212.2:p.Asp1996Val | |
| XM_005262156.3:c.5939A>T | XP_005262213.2:p.Asp1980Val | |
| XM_005262157.3:c.5900A>T | XP_005262214.2:p.Asp1967Val | |
| XM_006724666.2:c.5987A>T | XP_006724729.1:p.Asp1996Val | |
| XM_006724667.2:c.5825A>T | XP_006724730.1:p.Asp1942Val | |
| XR_938400.1:n.6446A>T | ||
| NM_000489.5:c.6104A>T | NP_000480.3:p.Asp2035Val | |
| XM_005262153.5:c.6101A>T | XP_005262210.2:p.Asp2034Val | |
| XM_005262154.5:c.6017A>T | XP_005262211.2:p.Asp2006Val | |
| XM_005262155.4:c.5987A>T | XP_005262212.2:p.Asp1996Val | |
| XM_005262156.4:c.5939A>T | XP_005262213.2:p.Asp1980Val | |
| XM_005262157.5:c.5900A>T | XP_005262214.2:p.Asp1967Val | |
| XM_006724666.4:c.5987A>T | XP_006724729.1:p.Asp1996Val | |
| XM_006724667.3:c.5825A>T | XP_006724730.1:p.Asp1942Val | |
| XM_017029601.2:c.6014A>T | XP_016885090.1:p.Asp2005Val | |
| XM_017029602.1:c.5984A>T | XP_016885091.1:p.Asp1995Val | |
| XM_017029603.1:c.5936A>T | XP_016885092.1:p.Asp1979Val | |
| XM_017029604.2:c.5903A>T | XP_016885093.1:p.Asp1968Val | |
| XM_017029605.1:c.5900A>T | XP_016885094.1:p.Asp1967Val | |
| XM_017029606.2:c.5873A>T | XP_016885095.1:p.Asp1958Val | |
| XM_017029607.2:c.5870A>T | XP_016885096.1:p.Asp1957Val | |
| XM_017029608.2:c.5822A>T | XP_016885097.1:p.Asp1941Val | |
| XM_017029609.1:c.5786A>T | XP_016885098.1:p.Asp1929Val | |
| XM_017029610.1:c.5783A>T | XP_016885099.1:p.Asp1928Val | |
| XM_017029611.1:c.5738A>T | XP_016885100.1:p.Asp1913Val | |
| XR_001755700.2:n.6403A>T | ||
| NM_138270.4:c.5990A>T | NP_612114.2:p.Asp1997Val | |
| NM_000489.6:c.6104A>T MANE Select | NP_000480.3:p.Asp2035Val | |
| NM_138270.5:c.5990A>T | NP_612114.2:p.Asp1997Val |