Linked Data
dbSNP Id:
rs1249804325
gnomAD v2:
13-95863011-T-C
gnomAD v3:
13-95210757-T-C
gnomAD v4:
13-95210757-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.95210757T>C , CM000675.2:g.95210757T>C | GRCh38 |
| NC_000013.10:g.95863011T>C , CM000675.1:g.95863011T>C | GRCh37 |
| NC_000013.9:g.94661012T>C | NCBI36 |
| NG_050651.1:g.95690A>G | |
| NG_050651.2:g.95690A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642524.1:c.*589A>G | ENSP00000493766.1:n.*589A>G | |
| ENST00000643051.1:c.556A>G | ENSP00000495513.1:p.Met186Val | |
| ENST00000643556.1:c.697A>G | ENSP00000494938.1:n.697A>G | |
| ENST00000643816.1:n.839A>G | ||
| ENST00000643842.1:c.*602A>G | ENSP00000493861.1:n.*602A>G | |
| ENST00000644471.1:n.652A>G | ||
| ENST00000645237.2:c.556A>G MANE Select | ENSP00000494609.1:p.Met186Val | |
| ENST00000645532.1:c.595A>G | ENSP00000494431.1:p.Met199Val | |
| ENST00000646439.1:c.556A>G | ENSP00000494751.1:p.Met186Val | |
| ENST00000376887.8:c.556A>G | ENSP00000366084.4:p.Met186Val | |
| ENST00000536256.3:c.331A>G | ENSP00000442024.1:p.Met111Val | |
| ENST00000629385.1:c.556A>G | ENSP00000487081.1:p.Met186Val | |
| NM_001105515.2:c.556A>G | NP_001098985.1:p.Met186Val | |
| NM_001301829.1:c.556A>G | NP_001288758.1:p.Met186Val | |
| NM_001301830.1:c.331A>G | NP_001288759.1:p.Met111Val | |
| NM_005845.4:c.556A>G | NP_005836.2:p.Met186Val | |
| XM_005254025.2:c.427A>G | XP_005254082.1:p.Met143Val | |
| XM_006719914.1:c.556A>G | XP_006719977.1:p.Met186Val | |
| XM_011521047.1:c.7A>G | XP_011519349.1:p.Met3Val | |
| XM_017020319.1:c.427A>G | XP_016875808.1:p.Met143Val | |
| XM_017020320.2:c.556A>G | XP_016875809.1:p.Met186Val | |
| XM_017020322.1:c.427A>G | XP_016875811.1:p.Met143Val | |
| NM_001105515.3:c.556A>G | NP_001098985.1:p.Met186Val | |
| NM_001301829.2:c.556A>G | NP_001288758.1:p.Met186Val | |
| NM_001301830.2:c.331A>G | NP_001288759.1:p.Met111Val | |
| NM_005845.5:c.556A>G MANE Select | NP_005836.2:p.Met186Val |