Linked Data
dbSNP Id:
rs2133318134
gnomAD v4:
9-136497211-G-C
MyVariant Identifiers:
chr9:g.139391663G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497211G>C , CM000671.2:g.136497211G>C | GRCh38 |
| NC_000009.11:g.139391663G>C , CM000671.1:g.139391663G>C | GRCh37 |
| NC_000009.10:g.138511484G>C | NCBI36 |
| NG_007458.1:g.53576C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6528C>G MANE Select | ENSP00000498587.1:p.Leu2176= | |
| ENST00000679595.1:c.*1568C>G | ENSP00000506241.1:n.*1568C>G | |
| ENST00000679969.1:n.3124C>G | ||
| ENST00000680003.1:n.2860C>G | ||
| ENST00000680133.1:c.6414C>G | ENSP00000505319.1:p.Leu2138= | |
| ENST00000680218.1:c.6408C>G | ENSP00000505339.1:p.Leu2136= | |
| ENST00000680668.1:c.6414C>G | ENSP00000506336.1:p.Leu2138= | |
| ENST00000680778.1:c.4125C>G | ENSP00000506033.1:p.Leu1375= | |
| ENST00000680924.1:c.*3928C>G | ENSP00000506031.1:n.*3928C>G | |
| ENST00000681135.1:c.*4137C>G | ENSP00000506636.1:n.*4137C>G | |
| ENST00000681298.1:n.4633C>G | ||
| ENST00000681454.1:c.*5764C>G | ENSP00000505763.1:n.*5764C>G | |
| ENST00000277541.6:c.6528C>G | ENSP00000277541.6:p.Leu2176= | |
| NM_017617.3:c.6528C>G | NP_060087.3:p.Leu2176= | |
| XM_011518717.1:c.5829C>G | XP_011517019.1:p.Leu1943= | |
| NM_017617.5:c.6528C>G MANE Select | NP_060087.3:p.Leu2176= | |
| XM_011518717.2:c.5805C>G | XP_011517019.2:p.Leu1935= |