Linked Data
ClinVar Variation Id:
1165831
ClinVar RCV Id:
RCV001513293
dbSNP Id:
rs782416494
ExAC:
X:76763907 C / T
gnomAD v2:
X-76763907-C-T
gnomAD v3:
X-77508429-C-T
gnomAD v4:
X-77508429-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77508429C>T , CM000685.2:g.77508429C>T | GRCh38 |
| NC_000023.10:g.76763907C>T , CM000685.1:g.76763907C>T | GRCh37 |
| NC_000023.9:g.76650563C>T | NCBI36 |
| NG_008838.2:g.282793G>A | |
| NG_008838.3:g.282841G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.7401G>A MANE Select | ENSP00000362441.4:p.Met2467Ile | |
| ENST00000675732.1:c.2499G>A | ENSP00000502598.1:p.Met833Ile | |
| ENST00000373344.9:c.7401G>A | ENSP00000362441.4:p.Met2467Ile | |
| ENST00000395603.7:c.7287G>A | ENSP00000378967.3:p.Met2429Ile | |
| ENST00000480283.5:c.*7029G>A | ENSP00000480196.1:n.*7029G>A | |
| ENST00000623706.3:n.5721G>A | ||
| NM_000489.4:c.7401G>A | NP_000480.3:p.Met2467Ile | |
| NM_138270.3:c.7287G>A | NP_612114.2:p.Met2429Ile | |
| XM_005262153.3:c.7398G>A | XP_005262210.2:p.Met2466Ile | |
| XM_005262154.3:c.7314G>A | XP_005262211.2:p.Met2438Ile | |
| XM_005262155.3:c.7284G>A | XP_005262212.2:p.Met2428Ile | |
| XM_005262156.3:c.7236G>A | XP_005262213.2:p.Met2412Ile | |
| XM_005262157.3:c.7197G>A | XP_005262214.2:p.Met2399Ile | |
| XM_006724666.2:c.7284G>A | XP_006724729.1:p.Met2428Ile | |
| XM_006724667.2:c.7122G>A | XP_006724730.1:p.Met2374Ile | |
| XR_938400.1:n.8993G>A | ||
| NM_000489.5:c.7401G>A | NP_000480.3:p.Met2467Ile | |
| XM_005262153.5:c.7398G>A | XP_005262210.2:p.Met2466Ile | |
| XM_005262154.5:c.7314G>A | XP_005262211.2:p.Met2438Ile | |
| XM_005262155.4:c.7284G>A | XP_005262212.2:p.Met2428Ile | |
| XM_005262156.4:c.7236G>A | XP_005262213.2:p.Met2412Ile | |
| XM_005262157.5:c.7197G>A | XP_005262214.2:p.Met2399Ile | |
| XM_006724666.4:c.7284G>A | XP_006724729.1:p.Met2428Ile | |
| XM_006724667.3:c.7122G>A | XP_006724730.1:p.Met2374Ile | |
| XM_017029601.2:c.7311G>A | XP_016885090.1:p.Met2437Ile | |
| XM_017029602.1:c.7281G>A | XP_016885091.1:p.Met2427Ile | |
| XM_017029603.1:c.7233G>A | XP_016885092.1:p.Met2411Ile | |
| XM_017029604.2:c.7200G>A | XP_016885093.1:p.Met2400Ile | |
| XM_017029605.1:c.7197G>A | XP_016885094.1:p.Met2399Ile | |
| XM_017029606.2:c.7170G>A | XP_016885095.1:p.Met2390Ile | |
| XM_017029607.2:c.7167G>A | XP_016885096.1:p.Met2389Ile | |
| XM_017029608.2:c.7119G>A | XP_016885097.1:p.Met2373Ile | |
| XM_017029609.1:c.7083G>A | XP_016885098.1:p.Met2361Ile | |
| XM_017029610.1:c.7080G>A | XP_016885099.1:p.Met2360Ile | |
| XM_017029611.1:c.7035G>A | XP_016885100.1:p.Met2345Ile | |
| XR_001755700.2:n.7700G>A | ||
| NM_138270.4:c.7287G>A | NP_612114.2:p.Met2429Ile | |
| NM_000489.6:c.7401G>A MANE Select | NP_000480.3:p.Met2467Ile | |
| NM_138270.5:c.7287G>A | NP_612114.2:p.Met2429Ile |