Linked Data
ClinVar Variation Id:
521610
dbSNP Id:
rs199543136
ExAC:
X:76763876 G / C
gnomAD v2:
X-76763876-G-C
gnomAD v3:
X-77508398-G-C
gnomAD v4:
X-77508398-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77508398G>C , CM000685.2:g.77508398G>C | GRCh38 |
| NC_000023.10:g.76763876G>C , CM000685.1:g.76763876G>C | GRCh37 |
| NC_000023.9:g.76650532G>C | NCBI36 |
| NG_008838.2:g.282824C>G | |
| NG_008838.3:g.282872C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.7432C>G MANE Select | ENSP00000362441.4:p.Pro2478Ala | |
| ENST00000675732.1:c.2530C>G | ENSP00000502598.1:p.Pro844Ala | |
| ENST00000373344.9:c.7432C>G | ENSP00000362441.4:p.Pro2478Ala | |
| ENST00000395603.7:c.7318C>G | ENSP00000378967.3:p.Pro2440Ala | |
| ENST00000480283.5:c.*7060C>G | ENSP00000480196.1:n.*7060C>G | |
| ENST00000623706.3:n.5752C>G | ||
| NM_000489.4:c.7432C>G | NP_000480.3:p.Pro2478Ala | |
| NM_138270.3:c.7318C>G | NP_612114.2:p.Pro2440Ala | |
| XM_005262153.3:c.7429C>G | XP_005262210.2:p.Pro2477Ala | |
| XM_005262154.3:c.7345C>G | XP_005262211.2:p.Pro2449Ala | |
| XM_005262155.3:c.7315C>G | XP_005262212.2:p.Pro2439Ala | |
| XM_005262156.3:c.7267C>G | XP_005262213.2:p.Pro2423Ala | |
| XM_005262157.3:c.7228C>G | XP_005262214.2:p.Pro2410Ala | |
| XM_006724666.2:c.7315C>G | XP_006724729.1:p.Pro2439Ala | |
| XM_006724667.2:c.7153C>G | XP_006724730.1:p.Pro2385Ala | |
| XR_938400.1:n.9024C>G | ||
| NM_000489.5:c.7432C>G | NP_000480.3:p.Pro2478Ala | |
| XM_005262153.5:c.7429C>G | XP_005262210.2:p.Pro2477Ala | |
| XM_005262154.5:c.7345C>G | XP_005262211.2:p.Pro2449Ala | |
| XM_005262155.4:c.7315C>G | XP_005262212.2:p.Pro2439Ala | |
| XM_005262156.4:c.7267C>G | XP_005262213.2:p.Pro2423Ala | |
| XM_005262157.5:c.7228C>G | XP_005262214.2:p.Pro2410Ala | |
| XM_006724666.4:c.7315C>G | XP_006724729.1:p.Pro2439Ala | |
| XM_006724667.3:c.7153C>G | XP_006724730.1:p.Pro2385Ala | |
| XM_017029601.2:c.7342C>G | XP_016885090.1:p.Pro2448Ala | |
| XM_017029602.1:c.7312C>G | XP_016885091.1:p.Pro2438Ala | |
| XM_017029603.1:c.7264C>G | XP_016885092.1:p.Pro2422Ala | |
| XM_017029604.2:c.7231C>G | XP_016885093.1:p.Pro2411Ala | |
| XM_017029605.1:c.7228C>G | XP_016885094.1:p.Pro2410Ala | |
| XM_017029606.2:c.7201C>G | XP_016885095.1:p.Pro2401Ala | |
| XM_017029607.2:c.7198C>G | XP_016885096.1:p.Pro2400Ala | |
| XM_017029608.2:c.7150C>G | XP_016885097.1:p.Pro2384Ala | |
| XM_017029609.1:c.7114C>G | XP_016885098.1:p.Pro2372Ala | |
| XM_017029610.1:c.7111C>G | XP_016885099.1:p.Pro2371Ala | |
| XM_017029611.1:c.7066C>G | XP_016885100.1:p.Pro2356Ala | |
| XR_001755700.2:n.7731C>G | ||
| NM_138270.4:c.7318C>G | NP_612114.2:p.Pro2440Ala | |
| NM_000489.6:c.7432C>G MANE Select | NP_000480.3:p.Pro2478Ala | |
| NM_138270.5:c.7318C>G | NP_612114.2:p.Pro2440Ala |