Linked Data
dbSNP Id:
rs782687209
ExAC:
X:76764002 G / C
gnomAD v2:
X-76764002-G-C
gnomAD v3:
X-77508524-G-C
gnomAD v4:
X-77508524-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77508524G>C , CM000685.2:g.77508524G>C | GRCh38 |
| NC_000023.10:g.76764002G>C , CM000685.1:g.76764002G>C | GRCh37 |
| NC_000023.9:g.76650658G>C | NCBI36 |
| NG_008838.2:g.282698C>G | |
| NG_008838.3:g.282746C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.7306C>G MANE Select | ENSP00000362441.4:p.Leu2436Val | |
| ENST00000675732.1:c.2404C>G | ENSP00000502598.1:p.Leu802Val | |
| ENST00000373344.9:c.7306C>G | ENSP00000362441.4:p.Leu2436Val | |
| ENST00000395603.7:c.7192C>G | ENSP00000378967.3:p.Leu2398Val | |
| ENST00000480283.5:c.*6934C>G | ENSP00000480196.1:n.*6934C>G | |
| ENST00000623706.3:n.5626C>G | ||
| ENST00000624766.1:n.537C>G | ||
| NM_000489.4:c.7306C>G | NP_000480.3:p.Leu2436Val | |
| NM_138270.3:c.7192C>G | NP_612114.2:p.Leu2398Val | |
| XM_005262153.3:c.7303C>G | XP_005262210.2:p.Leu2435Val | |
| XM_005262154.3:c.7219C>G | XP_005262211.2:p.Leu2407Val | |
| XM_005262155.3:c.7189C>G | XP_005262212.2:p.Leu2397Val | |
| XM_005262156.3:c.7141C>G | XP_005262213.2:p.Leu2381Val | |
| XM_005262157.3:c.7102C>G | XP_005262214.2:p.Leu2368Val | |
| XM_006724666.2:c.7189C>G | XP_006724729.1:p.Leu2397Val | |
| XM_006724667.2:c.7027C>G | XP_006724730.1:p.Leu2343Val | |
| XR_938400.1:n.8898C>G | ||
| NM_000489.5:c.7306C>G | NP_000480.3:p.Leu2436Val | |
| XM_005262153.5:c.7303C>G | XP_005262210.2:p.Leu2435Val | |
| XM_005262154.5:c.7219C>G | XP_005262211.2:p.Leu2407Val | |
| XM_005262155.4:c.7189C>G | XP_005262212.2:p.Leu2397Val | |
| XM_005262156.4:c.7141C>G | XP_005262213.2:p.Leu2381Val | |
| XM_005262157.5:c.7102C>G | XP_005262214.2:p.Leu2368Val | |
| XM_006724666.4:c.7189C>G | XP_006724729.1:p.Leu2397Val | |
| XM_006724667.3:c.7027C>G | XP_006724730.1:p.Leu2343Val | |
| XM_017029601.2:c.7216C>G | XP_016885090.1:p.Leu2406Val | |
| XM_017029602.1:c.7186C>G | XP_016885091.1:p.Leu2396Val | |
| XM_017029603.1:c.7138C>G | XP_016885092.1:p.Leu2380Val | |
| XM_017029604.2:c.7105C>G | XP_016885093.1:p.Leu2369Val | |
| XM_017029605.1:c.7102C>G | XP_016885094.1:p.Leu2368Val | |
| XM_017029606.2:c.7075C>G | XP_016885095.1:p.Leu2359Val | |
| XM_017029607.2:c.7072C>G | XP_016885096.1:p.Leu2358Val | |
| XM_017029608.2:c.7024C>G | XP_016885097.1:p.Leu2342Val | |
| XM_017029609.1:c.6988C>G | XP_016885098.1:p.Leu2330Val | |
| XM_017029610.1:c.6985C>G | XP_016885099.1:p.Leu2329Val | |
| XM_017029611.1:c.6940C>G | XP_016885100.1:p.Leu2314Val | |
| XR_001755700.2:n.7605C>G | ||
| NM_138270.4:c.7192C>G | NP_612114.2:p.Leu2398Val | |
| NM_000489.6:c.7306C>G MANE Select | NP_000480.3:p.Leu2436Val | |
| NM_138270.5:c.7192C>G | NP_612114.2:p.Leu2398Val |