Linked Data
dbSNP Id:
rs760644002
ExAC:
1:8419849 C / A
gnomAD v2:
1-8419849-C-A
gnomAD v3:
1-8359789-C-A
gnomAD v4:
1-8359789-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8359789C>A , CM000663.2:g.8359789C>A | GRCh38 |
| NC_000001.10:g.8419849C>A , CM000663.1:g.8419849C>A | GRCh37 |
| NC_000001.9:g.8342436C>A | NCBI36 |
| NG_047035.1:g.462903G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465125.2:c.1931G>T | ENSP00000515651.1:p.Arg644Leu | |
| ENST00000400908.7:c.3593G>T MANE Select | ENSP00000383700.2:p.Arg1198Leu | |
| ENST00000337907.7:c.3593G>T | ENSP00000338629.3:p.Arg1198Leu | |
| ENST00000377464.5:c.2789G>T | ENSP00000366684.1:p.Arg930Leu | |
| ENST00000400907.6:c.1541-4190G>T | ENSP00000383699.2:n.1541-4190G>T | |
| ENST00000400908.6:c.3593G>T | ENSP00000383700.2:p.Arg1198Leu | |
| ENST00000476556.5:c.1931G>T | ENSP00000422246.1:p.Arg644Leu | |
| ENST00000505225.1:c.307+1671G>T | ENSP00000423451.1:n.307+1671G>T | |
| NM_001042681.1:c.3593G>T | NP_001036146.1:p.Arg1198Leu | |
| NM_001042682.1:c.1931G>T | NP_001036147.1:p.Arg644Leu | |
| NM_012102.3:c.3593G>T | NP_036234.3:p.Arg1198Leu | |
| XM_005263464.1:c.3593G>T | XP_005263521.1:p.Arg1198Leu | |
| XM_005263466.1:c.2789G>T | XP_005263523.1:p.Arg930Leu | |
| XM_006710653.1:c.3593G>T | XP_006710716.1:p.Arg1198Leu | |
| XM_011541510.1:c.3467G>T | XP_011539812.1:p.Arg1156Leu | |
| XM_011541511.1:c.3395+323G>T | XP_011539813.1:n.3395+323G>T | |
| XM_005263464.2:c.3593G>T | XP_005263521.1:p.Arg1198Leu | |
| XM_011541510.2:c.3467G>T | XP_011539812.1:p.Arg1156Leu | |
| XM_011541511.2:c.3395+323G>T | XP_011539813.1:n.3395+323G>T | |
| XM_017001358.1:c.3593G>T | XP_016856847.1:p.Arg1198Leu | |
| XM_017001359.1:c.3593G>T | XP_016856848.1:p.Arg1198Leu | |
| NM_001042681.2:c.3593G>T MANE Select | NP_001036146.1:p.Arg1198Leu | |
| NM_001042682.2:c.1931G>T | NP_001036147.1:p.Arg644Leu | |
| NM_012102.4:c.3593G>T | NP_036234.3:p.Arg1198Leu |