Linked Data
ClinVar Variation Id:
1992112
ClinVar RCV Id:
RCV002791085
dbSNP Id:
rs200717925
gnomAD v2:
6-121482095-T-A
gnomAD v3:
6-121160949-T-A
gnomAD v4:
6-121160949-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121160949T>A , CM000668.2:g.121160949T>A | GRCh38 |
| NC_000006.11:g.121482095T>A , CM000668.1:g.121482095T>A | GRCh37 |
| NC_000006.10:g.121523794T>A | NCBI36 |
| NG_034203.1:g.178552A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275159.11:c.2801A>T | ENSP00000275159.6:p.Lys934Met | |
| ENST00000398212.7:c.2678A>T MANE Select | ENSP00000381270.2:p.Lys893Met | |
| ENST00000275159.10:c.2801A>T | ENSP00000275159.6:p.Lys934Met | |
| ENST00000398197.6:n.317A>T | ||
| ENST00000398212.6:c.2678A>T | ENSP00000381270.2:p.Lys893Met | |
| ENST00000464622.5:c.*2749A>T | ENSP00000428839.1:n.*2749A>T | |
| ENST00000523345.1:n.201A>T | ||
| NM_152730.5:c.2678A>T | NP_689943.4:p.Lys893Met | |
| NR_104452.1:n.3146A>T | ||
| XM_005266861.2:c.2801A>T | XP_005266918.1:p.Lys934Met | |
| XM_011535569.1:c.2801A>T | XP_011533871.1:p.Lys934Met | |
| XM_011535570.1:c.2801A>T | XP_011533872.1:p.Lys934Met | |
| XM_011535571.1:c.2801A>T | XP_011533873.1:p.Lys934Met | |
| XM_011535572.1:c.2678A>T | XP_011533874.1:p.Lys893Met | |
| XM_011535573.1:c.2675A>T | XP_011533875.1:p.Lys892Met | |
| XM_011535574.1:c.2474A>T | XP_011533876.1:p.Lys825Met | |
| XM_011535575.1:c.2801A>T | XP_011533877.1:p.Lys934Met | |
| XM_011535576.1:c.2801A>T | XP_011533878.1:p.Lys934Met | |
| XM_011535577.1:c.2801A>T | XP_011533879.1:p.Lys934Met | |
| XM_011535578.1:c.2801A>T | XP_011533880.1:p.Lys934Met | |
| XM_011535579.1:c.1622A>T | XP_011533881.1:p.Lys541Met | |
| XM_011535580.1:c.1622A>T | XP_011533882.1:p.Lys541Met | |
| XR_942343.1:n.2871A>T | ||
| XR_942345.1:n.2871A>T | ||
| XM_005266861.3:c.2801A>T | XP_005266918.1:p.Lys934Met | |
| XM_011535569.2:c.2801A>T | XP_011533871.1:p.Lys934Met | |
| XM_011535571.3:c.2801A>T | XP_011533873.1:p.Lys934Met | |
| XM_011535575.3:c.2801A>T | XP_011533877.1:p.Lys934Met | |
| XM_011535576.2:c.2801A>T | XP_011533878.1:p.Lys934Met | |
| XM_011535580.2:c.1622A>T | XP_011533882.1:p.Lys541Met | |
| XM_017010397.1:c.2801A>T | XP_016865886.1:p.Lys934Met | |
| XM_017010398.2:c.2801A>T | XP_016865887.1:p.Lys934Met | |
| XM_017010399.1:c.2678A>T | XP_016865888.1:p.Lys893Met | |
| XM_017010400.1:c.2675A>T | XP_016865889.1:p.Lys892Met | |
| XM_017010401.1:c.2678A>T | XP_016865890.1:p.Lys893Met | |
| XM_017010402.2:c.2801A>T | XP_016865891.1:p.Lys934Met | |
| XM_017010403.1:c.2801A>T | XP_016865892.1:p.Lys934Met | |
| XM_017010404.1:c.989A>T | XP_016865893.1:p.Lys330Met | |
| XR_001743231.1:n.2919A>T | ||
| XR_001743232.2:n.2780A>T | ||
| NM_001367759.1:c.2801A>T | NP_001354688.1:p.Lys934Met | |
| NM_001367760.1:c.2801A>T | NP_001354689.1:p.Lys934Met | |
| NM_152730.6:c.2678A>T MANE Select | NP_689943.4:p.Lys893Met | |
| NR_104452.2:n.3126A>T |