Linked Data
dbSNP Id:
rs1287254475
gnomAD v2:
1-10405953-A-G
gnomAD v3:
1-10345895-A-G
gnomAD v4:
1-10345895-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10345895A>G , CM000663.2:g.10345895A>G | GRCh38 |
| NC_000001.10:g.10405953A>G , CM000663.1:g.10405953A>G | GRCh37 |
| NC_000001.9:g.10328540A>G | NCBI36 |
| NG_008069.1:g.140190A>G , LRG_252:g.140190A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.3802A>G | ENSP00000512668.1:p.Met1268Val | |
| ENST00000696503.1:c.3664A>G | ENSP00000512669.1:p.Met1222Val | |
| ENST00000696504.1:c.3664A>G | ENSP00000512670.1:p.Met1222Val | |
| ENST00000676179.1:c.3739A>G MANE Select | ENSP00000502065.1:p.Met1247Val | |
| ENST00000263934.10:c.3601A>G | ENSP00000263934.6:p.Met1201Val | |
| ENST00000377081.5:c.3739A>G | ENSP00000366284.1:p.Met1247Val | |
| ENST00000377086.5:c.3739A>G | ENSP00000366290.1:p.Met1247Val | |
| ENST00000465635.5:n.194A>G | ||
| ENST00000483340.1:n.275A>G | ||
| ENST00000620295.2:c.3697A>G | ENSP00000478500.1:p.Met1233Val | |
| ENST00000622724.3:c.3661A>G | ENSP00000480063.1:p.Met1221Val | |
| NM_015074.3:c.3601A>G , LRG_252t1:c.3601A>G | NP_055889.2:p.Met1201Val | |
| NM_001365951.1:c.3739A>G | NP_001352880.1:p.Met1247Val | |
| NM_001365952.1:c.3739A>G | NP_001352881.1:p.Met1247Val | |
| NM_001365951.3:c.3739A>G MANE Select | NP_001352880.1:p.Met1247Val |