Linked Data
ClinVar Variation Id:
1993215
ClinVar RCV Id:
RCV002801234
dbSNP Id:
rs761873670
ExAC:
X:41390336 A / T
gnomAD v2:
X-41390336-A-T
gnomAD v3:
X-41531083-A-T
gnomAD v4:
X-41531083-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41531083A>T , CM000685.2:g.41531083A>T | GRCh38 |
| NC_000023.10:g.41390336A>T , CM000685.1:g.41390336A>T | GRCh37 |
| NC_000023.9:g.41275280A>T | NCBI36 |
| NG_016754.1:g.396952T>A | |
| NG_016754.2:g.396952T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378154.3:c.2393T>A | ENSP00000367396.2:p.Met798Lys | |
| ENST00000378158.6:c.2390T>A | ENSP00000367400.2:p.Met797Lys | |
| ENST00000378163.7:c.2444T>A MANE Select | ENSP00000367405.1:p.Met815Lys | |
| ENST00000378166.9:c.2342T>A | ENSP00000367408.5:p.Met781Lys | |
| ENST00000378168.8:c.2447T>A | ENSP00000367410.4:p.Met816Lys | |
| ENST00000378179.9:c.1064T>A | ENSP00000367421.4:p.Met355Lys | |
| ENST00000421587.8:c.2375T>A | ENSP00000400526.4:p.Met792Lys | |
| ENST00000442742.7:c.2306T>A | ENSP00000398007.3:p.Met769Lys | |
| ENST00000642499.1:n.1223T>A | ||
| ENST00000643733.1:c.216T>A | ||
| ENST00000644219.1:c.2426T>A | ENSP00000495357.1:p.Met809Lys | |
| ENST00000644347.1:c.2357T>A | ENSP00000494183.1:p.Met786Lys | |
| ENST00000645566.1:c.2429T>A | ENSP00000494788.1:p.Met810Lys | |
| ENST00000645937.2:n.2675T>A | ||
| ENST00000645986.2:c.2411T>A | ENSP00000494409.2:p.Met804Lys | |
| ENST00000646087.2:c.1766T>A | ENSP00000495510.2:p.Met589Lys | |
| ENST00000646120.2:c.2360T>A | ENSP00000495291.2:p.Met787Lys | |
| ENST00000675354.1:c.2378T>A | ENSP00000502315.1:p.Met793Lys | |
| ENST00000378158.5:c.2393T>A | ENSP00000367400.1:p.Met798Lys | |
| ENST00000378163.5:c.2444T>A | ENSP00000367405.1:p.Met815Lys | |
| ENST00000378166.8:c.2429T>A | ENSP00000367408.4:p.Met810Lys | |
| ENST00000378168.6:c.809T>A | ENSP00000367410.2:p.Met270Lys | |
| ENST00000378179.7:c.1220T>A | ENSP00000367421.3:p.Met407Lys | |
| ENST00000421587.6:c.2357T>A | ENSP00000400526.2:p.Met786Lys | |
| ENST00000442742.6:c.2360T>A | ENSP00000398007.2:p.Met787Lys | |
| NM_001126054.2:c.2360T>A | NP_001119526.1:p.Met787Lys | |
| NM_001126055.2:c.2357T>A | NP_001119527.1:p.Met786Lys | |
| NM_003688.3:c.2429T>A | NP_003679.2:p.Met810Lys | |
| XM_005272686.3:c.2426T>A | XP_005272743.1:p.Met809Lys | |
| XM_006724566.2:c.2321T>A | XP_006724629.1:p.Met774Lys | |
| XM_011543993.1:c.2444T>A | XP_011542295.1:p.Met815Lys | |
| XM_011543994.1:c.2408T>A | XP_011542296.1:p.Met803Lys | |
| XM_011543995.1:c.2375T>A | XP_011542297.1:p.Met792Lys | |
| XM_011543996.1:c.2339T>A | XP_011542298.1:p.Met780Lys | |
| XM_011543997.1:c.1871T>A | XP_011542299.1:p.Met624Lys | |
| XM_005272686.4:c.2426T>A | XP_005272743.1:p.Met809Lys | |
| XM_006724566.3:c.2321T>A | XP_006724629.1:p.Met774Lys | |
| XM_011543993.2:c.2444T>A | XP_011542295.1:p.Met815Lys | |
| XM_011543994.2:c.2408T>A | XP_011542296.1:p.Met803Lys | |
| XM_011543995.2:c.2375T>A | XP_011542297.1:p.Met792Lys | |
| XM_011543996.2:c.2339T>A | XP_011542298.1:p.Met780Lys | |
| XM_011543997.3:c.1871T>A | XP_011542299.1:p.Met624Lys | |
| XM_024452473.1:c.1766T>A | XP_024308241.1:p.Met589Lys | |
| NM_001367721.1:c.2444T>A MANE Select | NP_001354650.1:p.Met815Lys |