Linked Data
dbSNP Id:
rs1641488243
gnomAD v4:
1-8359922-G-A
MyVariant Identifiers:
chr1:g.8419982G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8359922G>A , CM000663.2:g.8359922G>A | GRCh38 |
| NC_000001.10:g.8419982G>A , CM000663.1:g.8419982G>A | GRCh37 |
| NC_000001.9:g.8342569G>A | NCBI36 |
| NG_047035.1:g.462770C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465125.2:c.1798C>T | ENSP00000515651.1:p.Leu600= | |
| ENST00000400908.7:c.3460C>T MANE Select | ENSP00000383700.2:p.Leu1154= | |
| ENST00000337907.7:c.3460C>T | ENSP00000338629.3:p.Leu1154= | |
| ENST00000377464.5:c.2656C>T | ENSP00000366684.1:p.Leu886= | |
| ENST00000400907.6:c.1541-4323C>T | ENSP00000383699.2:n.1541-4323C>T | |
| ENST00000400908.6:c.3460C>T | ENSP00000383700.2:p.Leu1154= | |
| ENST00000476556.5:c.1798C>T | ENSP00000422246.1:p.Leu600= | |
| ENST00000505225.1:c.307+1538C>T | ENSP00000423451.1:n.307+1538C>T | |
| NM_001042681.1:c.3460C>T | NP_001036146.1:p.Leu1154= | |
| NM_001042682.1:c.1798C>T | NP_001036147.1:p.Leu600= | |
| NM_012102.3:c.3460C>T | NP_036234.3:p.Leu1154= | |
| XM_005263464.1:c.3460C>T | XP_005263521.1:p.Leu1154= | |
| XM_005263466.1:c.2656C>T | XP_005263523.1:p.Leu886= | |
| XM_006710653.1:c.3460C>T | XP_006710716.1:p.Leu1154= | |
| XM_011541510.1:c.3334C>T | XP_011539812.1:p.Leu1112= | |
| XM_011541511.1:c.3395+190C>T | XP_011539813.1:n.3395+190C>T | |
| XM_005263464.2:c.3460C>T | XP_005263521.1:p.Leu1154= | |
| XM_011541510.2:c.3334C>T | XP_011539812.1:p.Leu1112= | |
| XM_011541511.2:c.3395+190C>T | XP_011539813.1:n.3395+190C>T | |
| XM_017001358.1:c.3460C>T | XP_016856847.1:p.Leu1154= | |
| XM_017001359.1:c.3460C>T | XP_016856848.1:p.Leu1154= | |
| NM_001042681.2:c.3460C>T MANE Select | NP_001036146.1:p.Leu1154= | |
| NM_001042682.2:c.1798C>T | NP_001036147.1:p.Leu600= | |
| NM_012102.4:c.3460C>T | NP_036234.3:p.Leu1154= |