Linked Data
dbSNP Id:
rs1843055812
gnomAD v4:
9-136504936-C-A
MyVariant Identifiers:
chr9:g.139399388C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504936C>A , CM000671.2:g.136504936C>A | GRCh38 |
| NC_000009.11:g.139399388C>A , CM000671.1:g.139399388C>A | GRCh37 |
| NC_000009.10:g.138519209C>A | NCBI36 |
| NG_007458.1:g.45851G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2562G>T | ||
| ENST00000651671.1:c.4755G>T MANE Select | ENSP00000498587.1:p.Leu1585= | |
| ENST00000679595.1:c.4755G>T | ENSP00000506241.1:p.Leu1585= | |
| ENST00000680133.1:c.4641G>T | ENSP00000505319.1:p.Leu1547= | |
| ENST00000680218.1:c.4635G>T | ENSP00000505339.1:p.Leu1545= | |
| ENST00000680668.1:c.4641G>T | ENSP00000506336.1:p.Leu1547= | |
| ENST00000680778.1:c.2352G>T | ENSP00000506033.1:p.Leu784= | |
| ENST00000680924.1:c.*2155G>T | ENSP00000506031.1:n.*2155G>T | |
| ENST00000681135.1:c.*2364G>T | ENSP00000506636.1:n.*2364G>T | |
| ENST00000681298.1:n.1568G>T | ||
| ENST00000681454.1:c.*3991G>T | ENSP00000505763.1:n.*3991G>T | |
| ENST00000277541.6:c.4755G>T | ENSP00000277541.6:p.Leu1585= | |
| NM_017617.3:c.4755G>T | NP_060087.3:p.Leu1585= | |
| XM_011518717.1:c.4056G>T | XP_011517019.1:p.Leu1352= | |
| NM_017617.5:c.4755G>T MANE Select | NP_060087.3:p.Leu1585= | |
| XM_011518717.2:c.4032G>T | XP_011517019.2:p.Leu1344= |