Linked Data
dbSNP Id:
rs2133336253
gnomAD v4:
9-136504807-C-T
MyVariant Identifiers:
chr9:g.139399259C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504807C>T , CM000671.2:g.136504807C>T | GRCh38 |
| NC_000009.11:g.139399259C>T , CM000671.1:g.139399259C>T | GRCh37 |
| NC_000009.10:g.138519080C>T | NCBI36 |
| NG_007458.1:g.45980G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2691G>A | ||
| ENST00000651671.1:c.4884G>A MANE Select | ENSP00000498587.1:p.Lys1628= | |
| ENST00000679595.1:c.4884G>A | ENSP00000506241.1:p.Lys1628= | |
| ENST00000680133.1:c.4770G>A | ENSP00000505319.1:p.Lys1590= | |
| ENST00000680218.1:c.4764G>A | ENSP00000505339.1:p.Lys1588= | |
| ENST00000680668.1:c.4770G>A | ENSP00000506336.1:p.Lys1590= | |
| ENST00000680778.1:c.2481G>A | ENSP00000506033.1:p.Lys827= | |
| ENST00000680924.1:c.*2284G>A | ENSP00000506031.1:n.*2284G>A | |
| ENST00000681135.1:c.*2493G>A | ENSP00000506636.1:n.*2493G>A | |
| ENST00000681298.1:n.1697G>A | ||
| ENST00000681454.1:c.*4120G>A | ENSP00000505763.1:n.*4120G>A | |
| ENST00000277541.6:c.4884G>A | ENSP00000277541.6:p.Lys1628= | |
| ENST00000494783.1:n.39G>A | ||
| NM_017617.3:c.4884G>A | NP_060087.3:p.Lys1628= | |
| XM_011518717.1:c.4185G>A | XP_011517019.1:p.Lys1395= | |
| NM_017617.5:c.4884G>A MANE Select | NP_060087.3:p.Lys1628= | |
| XM_011518717.2:c.4161G>A | XP_011517019.2:p.Lys1387= |