Linked Data
dbSNP Id:
rs137859428
ExAC:
6:116948855 T / A
gnomAD v2:
6-116948855-T-A
gnomAD v4:
6-116627692-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116627692T>A , CM000668.2:g.116627692T>A | GRCh38 |
| NC_000006.11:g.116948855T>A , CM000668.1:g.116948855T>A | GRCh37 |
| NC_000006.10:g.117055548T>A | NCBI36 |
| NG_012934.1:g.16214T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229554.10:c.985T>A MANE Select | ENSP00000229554.5:p.Leu329Met | |
| ENST00000229554.9:c.985T>A | ENSP00000229554.5:p.Leu329Met | |
| ENST00000368580.4:c.922-1875T>A | ENSP00000357569.4:n.922-1875T>A | |
| ENST00000368581.8:c.985T>A | ENSP00000357570.4:p.Leu329Met | |
| NM_001010892.2:c.985T>A | NP_001010892.1:p.Leu329Met | |
| NM_001161664.1:c.985T>A | NP_001155136.1:p.Leu329Met | |
| XM_006715469.2:c.985T>A | XP_006715532.1:p.Leu329Met | |
| XM_011535791.1:c.985T>A | XP_011534093.1:p.Leu329Met | |
| XM_011535792.1:c.985T>A | XP_011534094.1:p.Leu329Met | |
| XR_942416.1:n.3636T>A | ||
| XM_017010826.1:c.985T>A | XP_016866315.1:p.Leu329Met | |
| NM_001010892.3:c.985T>A MANE Select | NP_001010892.1:p.Leu329Met | |
| NM_001161664.2:c.985T>A | NP_001155136.1:p.Leu329Met |