Linked Data
ClinVar Variation Id:
11449
dbSNP Id:
rs137853322
ExAC:
X:153792635 A / G
gnomAD v2:
X-153792635-A-G
PubMed:
PMID:10839543
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154564420A>G , CM000685.2:g.154564420A>G | GRCh38 |
| NC_000023.10:g.153792635A>G , CM000685.1:g.153792635A>G | GRCh37 |
| NC_000023.9:g.153445829A>G | NCBI36 |
| NG_009896.1:g.27177A>G , LRG_70:g.27177A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413620.6:c.1183A>G | ENSP00000398579.2:p.Met395Val | |
| ENST00000422680.6:c.1219A>G | ENSP00000390368.3:p.Met407Val | |
| ENST00000440286.6:c.1219A>G | ENSP00000394934.2:p.Met407Val | |
| ENST00000445622.6:c.1219A>G | ENSP00000395205.2:p.Met407Val | |
| ENST00000615186.5:c.817A>G | ENSP00000479144.2:p.Met273Val | |
| ENST00000689906.1:c.1066A>G | ENSP00000508630.1:p.Met356Val | |
| ENST00000692948.1:c.1276A>G | ENSP00000508773.1:p.Met426Val | |
| ENST00000594239.6:c.1219A>G MANE Select | ENSP00000471166.1:p.Met407Val | |
| ENST00000594239.5:c.1219A>G | ENSP00000471166.1:p.Met407Val | |
| ENST00000611071.4:c.1219A>G | ENSP00000479662.1:p.Met407Val | |
| ENST00000611176.4:c.922A>G | ENSP00000478616.1:p.Met308Val | |
| ENST00000612051.1:c.*1211A>G | ENSP00000480431.1:n.*1211A>G | |
| ENST00000615874.4:c.1195A>G | ENSP00000483381.1:p.Met399Val | |
| ENST00000617207.4:c.1216A>G | ENSP00000484023.1:p.Met406Val | |
| ENST00000618670.4:c.1423A>G | ENSP00000483825.1:p.Met475Val | |
| ENST00000619941.4:c.1198A>G | ENSP00000478979.1:p.Met400Val | |
| NM_001099856.3:c.1423A>G | NP_001093326.2:p.Met475Val | |
| NM_001099857.2:c.1219A>G | NP_001093327.1:p.Met407Val | |
| NM_001145255.2:c.922A>G | NP_001138727.1:p.Met308Val | |
| NM_003639.4:c.1219A>G | NP_003630.1:p.Met407Val | |
| XM_005274760.3:c.1420A>G | XP_005274817.1:p.Met474Val | |
| XM_005274761.3:c.1321+400A>G | XP_005274818.1:n.1321+400A>G | |
| XM_005274764.3:c.1216A>G | XP_005274821.1:p.Met406Val | |
| XM_011531203.1:c.1270A>G | XP_011529505.1:p.Met424Val | |
| XM_011531204.1:c.1219A>G | XP_011529506.1:p.Met407Val | |
| XM_011531205.1:c.1219A>G | XP_011529507.1:p.Met407Val | |
| NM_001099856.4:c.1423A>G | NP_001093326.2:p.Met475Val | |
| NM_001321396.1:c.1219A>G | NP_001308325.1:p.Met407Val | |
| NM_001321397.1:c.1216A>G | NP_001308326.1:p.Met406Val | |
| NM_001099856.6:c.1423A>G | NP_001093326.2:p.Met475Val | |
| NM_001099857.4:c.1219A>G | NP_001093327.1:p.Met407Val | |
| NM_001145255.4:c.922A>G | NP_001138727.1:p.Met308Val | |
| NM_001321396.3:c.1219A>G | NP_001308325.1:p.Met407Val | |
| NM_001321397.3:c.1216A>G | NP_001308326.1:p.Met406Val | |
| NM_001377312.1:c.1219A>G | NP_001364241.1:p.Met407Val | |
| NM_001377313.1:c.1216A>G | NP_001364242.1:p.Met406Val | |
| NM_001377314.1:c.1063A>G | NP_001364243.1:p.Met355Val | |
| NM_001377315.1:c.850A>G | NP_001364244.1:p.Met284Val | |
| NR_165197.1:n.1088A>G | ||
| NM_001099857.5:c.1219A>G MANE Select | NP_001093327.1:p.Met407Val |