Linked Data
ClinVar Variation Id:
434467
dbSNP Id:
rs782705007
ExAC:
X:76938264 C / G
gnomAD v2:
X-76938264-C-G
gnomAD v3:
X-77682772-C-G
gnomAD v4:
X-77682772-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77682772C>G , CM000685.2:g.77682772C>G | GRCh38 |
| NC_000023.10:g.76938264C>G , CM000685.1:g.76938264C>G | GRCh37 |
| NC_000023.9:g.76824920C>G | NCBI36 |
| NG_008838.2:g.108450G>C | |
| NG_008838.3:g.108498G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.2484G>C MANE Select | ENSP00000362441.4:p.Met828Ile | |
| ENST00000373344.9:c.2484G>C | ENSP00000362441.4:p.Met828Ile | |
| ENST00000395603.7:c.2370G>C | ENSP00000378967.3:p.Met790Ile | |
| ENST00000480283.5:c.*2112G>C | ENSP00000480196.1:n.*2112G>C | |
| ENST00000624032.3:c.2397G>C | ENSP00000485253.1:p.Met799Ile | |
| ENST00000624166.3:c.2280G>C | ENSP00000485103.1:p.Met760Ile | |
| NM_000489.4:c.2484G>C | NP_000480.3:p.Met828Ile | |
| NM_138270.3:c.2370G>C | NP_612114.2:p.Met790Ile | |
| XM_005262153.3:c.2481G>C | XP_005262210.2:p.Met827Ile | |
| XM_005262154.3:c.2397G>C | XP_005262211.2:p.Met799Ile | |
| XM_005262155.3:c.2367G>C | XP_005262212.2:p.Met789Ile | |
| XM_005262156.3:c.2319G>C | XP_005262213.2:p.Met773Ile | |
| XM_005262157.3:c.2280G>C | XP_005262214.2:p.Met760Ile | |
| XM_006724666.2:c.2367G>C | XP_006724729.1:p.Met789Ile | |
| XM_006724667.2:c.2205G>C | XP_006724730.1:p.Met735Ile | |
| XM_006724668.2:c.2484G>C | XP_006724731.1:p.Met828Ile | |
| XR_938400.1:n.2752G>C | ||
| NM_000489.5:c.2484G>C | NP_000480.3:p.Met828Ile | |
| XM_005262153.5:c.2481G>C | XP_005262210.2:p.Met827Ile | |
| XM_005262154.5:c.2397G>C | XP_005262211.2:p.Met799Ile | |
| XM_005262155.4:c.2367G>C | XP_005262212.2:p.Met789Ile | |
| XM_005262156.4:c.2319G>C | XP_005262213.2:p.Met773Ile | |
| XM_005262157.5:c.2280G>C | XP_005262214.2:p.Met760Ile | |
| XM_006724666.4:c.2367G>C | XP_006724729.1:p.Met789Ile | |
| XM_006724667.3:c.2205G>C | XP_006724730.1:p.Met735Ile | |
| XM_006724668.3:c.2484G>C | XP_006724731.1:p.Met828Ile | |
| XM_017029601.2:c.2394G>C | XP_016885090.1:p.Met798Ile | |
| XM_017029602.1:c.2364G>C | XP_016885091.1:p.Met788Ile | |
| XM_017029603.1:c.2316G>C | XP_016885092.1:p.Met772Ile | |
| XM_017029604.2:c.2283G>C | XP_016885093.1:p.Met761Ile | |
| XM_017029605.1:c.2280G>C | XP_016885094.1:p.Met760Ile | |
| XM_017029606.2:c.2253G>C | XP_016885095.1:p.Met751Ile | |
| XM_017029607.2:c.2250G>C | XP_016885096.1:p.Met750Ile | |
| XM_017029608.2:c.2202G>C | XP_016885097.1:p.Met734Ile | |
| XM_017029609.1:c.2166G>C | XP_016885098.1:p.Met722Ile | |
| XM_017029610.1:c.2163G>C | XP_016885099.1:p.Met721Ile | |
| XM_017029611.1:c.2118G>C | XP_016885100.1:p.Met706Ile | |
| XR_001755700.2:n.2709G>C | ||
| NM_138270.4:c.2370G>C | NP_612114.2:p.Met790Ile | |
| NM_000489.6:c.2484G>C MANE Select | NP_000480.3:p.Met828Ile | |
| NM_138270.5:c.2370G>C | NP_612114.2:p.Met790Ile |