Linked Data
ClinVar Variation Id:
281524
dbSNP Id:
rs200478641
ExAC:
X:76763873 T / C
gnomAD v2:
X-76763873-T-C
gnomAD v3:
X-77508395-T-C
gnomAD v4:
X-77508395-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77508395T>C , CM000685.2:g.77508395T>C | GRCh38 |
| NC_000023.10:g.76763873T>C , CM000685.1:g.76763873T>C | GRCh37 |
| NC_000023.9:g.76650529T>C | NCBI36 |
| NG_008838.2:g.282827A>G | |
| NG_008838.3:g.282875A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.7435A>G MANE Select | ENSP00000362441.4:p.Met2479Val | |
| ENST00000675732.1:c.2533A>G | ENSP00000502598.1:p.Met845Val | |
| ENST00000373344.9:c.7435A>G | ENSP00000362441.4:p.Met2479Val | |
| ENST00000395603.7:c.7321A>G | ENSP00000378967.3:p.Met2441Val | |
| ENST00000480283.5:c.*7063A>G | ENSP00000480196.1:n.*7063A>G | |
| ENST00000623706.3:n.5755A>G | ||
| NM_000489.4:c.7435A>G | NP_000480.3:p.Met2479Val | |
| NM_138270.3:c.7321A>G | NP_612114.2:p.Met2441Val | |
| XM_005262153.3:c.7432A>G | XP_005262210.2:p.Met2478Val | |
| XM_005262154.3:c.7348A>G | XP_005262211.2:p.Met2450Val | |
| XM_005262155.3:c.7318A>G | XP_005262212.2:p.Met2440Val | |
| XM_005262156.3:c.7270A>G | XP_005262213.2:p.Met2424Val | |
| XM_005262157.3:c.7231A>G | XP_005262214.2:p.Met2411Val | |
| XM_006724666.2:c.7318A>G | XP_006724729.1:p.Met2440Val | |
| XM_006724667.2:c.7156A>G | XP_006724730.1:p.Met2386Val | |
| XR_938400.1:n.9027A>G | ||
| NM_000489.5:c.7435A>G | NP_000480.3:p.Met2479Val | |
| XM_005262153.5:c.7432A>G | XP_005262210.2:p.Met2478Val | |
| XM_005262154.5:c.7348A>G | XP_005262211.2:p.Met2450Val | |
| XM_005262155.4:c.7318A>G | XP_005262212.2:p.Met2440Val | |
| XM_005262156.4:c.7270A>G | XP_005262213.2:p.Met2424Val | |
| XM_005262157.5:c.7231A>G | XP_005262214.2:p.Met2411Val | |
| XM_006724666.4:c.7318A>G | XP_006724729.1:p.Met2440Val | |
| XM_006724667.3:c.7156A>G | XP_006724730.1:p.Met2386Val | |
| XM_017029601.2:c.7345A>G | XP_016885090.1:p.Met2449Val | |
| XM_017029602.1:c.7315A>G | XP_016885091.1:p.Met2439Val | |
| XM_017029603.1:c.7267A>G | XP_016885092.1:p.Met2423Val | |
| XM_017029604.2:c.7234A>G | XP_016885093.1:p.Met2412Val | |
| XM_017029605.1:c.7231A>G | XP_016885094.1:p.Met2411Val | |
| XM_017029606.2:c.7204A>G | XP_016885095.1:p.Met2402Val | |
| XM_017029607.2:c.7201A>G | XP_016885096.1:p.Met2401Val | |
| XM_017029608.2:c.7153A>G | XP_016885097.1:p.Met2385Val | |
| XM_017029609.1:c.7117A>G | XP_016885098.1:p.Met2373Val | |
| XM_017029610.1:c.7114A>G | XP_016885099.1:p.Met2372Val | |
| XM_017029611.1:c.7069A>G | XP_016885100.1:p.Met2357Val | |
| XR_001755700.2:n.7734A>G | ||
| NM_138270.4:c.7321A>G | NP_612114.2:p.Met2441Val | |
| NM_000489.6:c.7435A>G MANE Select | NP_000480.3:p.Met2479Val | |
| NM_138270.5:c.7321A>G | NP_612114.2:p.Met2441Val |