Linked Data
ClinVar Variation Id:
540202
dbSNP Id:
rs199615869
ExAC:
5:140054320 C / T
gnomAD v2:
5-140054320-C-T
gnomAD v3:
5-140674735-C-T
gnomAD v4:
5-140674735-C-T
COSMIC:
COSM6457697
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140674735C>T , CM000667.2:g.140674735C>T | GRCh38 |
| NC_000005.9:g.140054320C>T , CM000667.1:g.140054320C>T | GRCh37 |
| NC_000005.8:g.140034504C>T | NCBI36 |
| NG_032158.1:g.21652G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431330.7:c.1060G>A | ENSP00000393244.2:p.Glu354Lys | |
| ENST00000504156.7:c.1402G>A MANE Select | ENSP00000425634.1:p.Glu468Lys | |
| ENST00000506579.6:n.4147G>A | ||
| ENST00000507746.7:c.1402G>A | ENSP00000425889.2:p.Glu468Lys | |
| ENST00000509087.2:c.388G>A | ENSP00000502781.1:p.Glu130Lys | |
| ENST00000512396.6:c.*1341G>A | ENSP00000421576.1:n.*1341G>A | |
| ENST00000643686.1:c.*1457G>A | ENSP00000493611.1:n.*1457G>A | |
| ENST00000645491.1:c.*1335G>A | ENSP00000494297.1:n.*1335G>A | |
| ENST00000646229.1:c.1453G>A | ||
| ENST00000674523.1:c.*692G>A | ENSP00000501816.1:n.*692G>A | |
| ENST00000675094.1:n.2499G>A | ||
| ENST00000675204.1:c.1402G>A | ENSP00000501643.1:p.Glu468Lys | |
| ENST00000675355.1:n.1187G>A | ||
| ENST00000675366.1:c.1285G>A | ENSP00000501747.1:p.Glu429Lys | |
| ENST00000675698.1:c.1195G>A | ENSP00000501581.1:p.Glu399Lys | |
| ENST00000675763.1:n.3309G>A | ||
| ENST00000675827.1:c.*495G>A | ENSP00000501900.1:n.*495G>A | |
| ENST00000675851.1:c.1072G>A | ENSP00000502624.1:p.Glu358Lys | |
| ENST00000675898.1:n.3220G>A | ||
| ENST00000675967.1:n.3016G>A | ||
| ENST00000676327.1:c.1294G>A | ENSP00000502594.1:p.Glu432Lys | |
| ENST00000307633.7:c.1222G>A | ENSP00000304668.3:p.Glu408Lys | |
| ENST00000415192.6:c.1180G>A | ENSP00000411085.2:p.Glu394Lys | |
| ENST00000431330.6:c.1060G>A | ENSP00000393244.2:p.Glu354Lys | |
| ENST00000438307.6:c.1282G>A | ENSP00000411511.2:p.Glu428Lys | |
| ENST00000457527.6:c.1342G>A | ENSP00000387893.2:p.Glu448Lys | |
| ENST00000504156.5:c.1402G>A | ENSP00000425634.1:p.Glu468Lys | |
| ENST00000504366.5:c.1195G>A | ENSP00000430063.1:p.Glu399Lys | |
| ENST00000509087.1:n.408G>A | ||
| NM_001258040.2:c.1282G>A | NP_001244969.1:p.Glu428Lys | |
| NM_001258041.2:c.1342G>A | NP_001244970.1:p.Glu448Lys | |
| NM_001258042.2:c.1222G>A | NP_001244971.1:p.Glu408Lys | |
| NM_001289092.1:c.1180G>A | NP_001276021.1:p.Glu394Lys | |
| NM_001289093.1:c.1060G>A | NP_001276022.1:p.Glu354Lys | |
| NM_001289094.1:c.1315G>A | NP_001276023.1:p.Glu439Lys | |
| NM_002109.5:c.1402G>A | NP_002100.2:p.Glu468Lys | |
| NM_002109.6:c.1402G>A MANE Select | NP_002100.2:p.Glu468Lys | |
| NM_001258040.3:c.1282G>A | NP_001244969.1:p.Glu428Lys | |
| NM_001258041.3:c.1342G>A | NP_001244970.1:p.Glu448Lys | |
| NM_001258042.3:c.1222G>A | NP_001244971.1:p.Glu408Lys | |
| NM_001289092.2:c.1180G>A | NP_001276021.1:p.Glu394Lys | |
| NM_001289093.2:c.1060G>A | NP_001276022.1:p.Glu354Lys | |
| NM_001289094.2:c.1315G>A | NP_001276023.1:p.Glu439Lys |