Linked Data
dbSNP Id:
rs1187615124
gnomAD v2:
1-8419988-T-G
gnomAD v3:
1-8359928-T-G
gnomAD v4:
1-8359928-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8359928T>G , CM000663.2:g.8359928T>G | GRCh38 |
| NC_000001.10:g.8419988T>G , CM000663.1:g.8419988T>G | GRCh37 |
| NC_000001.9:g.8342575T>G | NCBI36 |
| NG_047035.1:g.462764A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465125.2:c.1792A>C | ENSP00000515651.1:p.Met598Leu | |
| ENST00000400908.7:c.3454A>C MANE Select | ENSP00000383700.2:p.Met1152Leu | |
| ENST00000337907.7:c.3454A>C | ENSP00000338629.3:p.Met1152Leu | |
| ENST00000377464.5:c.2650A>C | ENSP00000366684.1:p.Met884Leu | |
| ENST00000400907.6:c.1541-4329A>C | ENSP00000383699.2:n.1541-4329A>C | |
| ENST00000400908.6:c.3454A>C | ENSP00000383700.2:p.Met1152Leu | |
| ENST00000476556.5:c.1792A>C | ENSP00000422246.1:p.Met598Leu | |
| ENST00000505225.1:c.307+1532A>C | ENSP00000423451.1:n.307+1532A>C | |
| NM_001042681.1:c.3454A>C | NP_001036146.1:p.Met1152Leu | |
| NM_001042682.1:c.1792A>C | NP_001036147.1:p.Met598Leu | |
| NM_012102.3:c.3454A>C | NP_036234.3:p.Met1152Leu | |
| XM_005263464.1:c.3454A>C | XP_005263521.1:p.Met1152Leu | |
| XM_005263466.1:c.2650A>C | XP_005263523.1:p.Met884Leu | |
| XM_006710653.1:c.3454A>C | XP_006710716.1:p.Met1152Leu | |
| XM_011541510.1:c.3328A>C | XP_011539812.1:p.Met1110Leu | |
| XM_011541511.1:c.3395+184A>C | XP_011539813.1:n.3395+184A>C | |
| XM_005263464.2:c.3454A>C | XP_005263521.1:p.Met1152Leu | |
| XM_011541510.2:c.3328A>C | XP_011539812.1:p.Met1110Leu | |
| XM_011541511.2:c.3395+184A>C | XP_011539813.1:n.3395+184A>C | |
| XM_017001358.1:c.3454A>C | XP_016856847.1:p.Met1152Leu | |
| XM_017001359.1:c.3454A>C | XP_016856848.1:p.Met1152Leu | |
| NM_001042681.2:c.3454A>C MANE Select | NP_001036146.1:p.Met1152Leu | |
| NM_001042682.2:c.1792A>C | NP_001036147.1:p.Met598Leu | |
| NM_012102.4:c.3454A>C | NP_036234.3:p.Met1152Leu |