Linked Data
ClinVar Variation Id:
2162871
dbSNP Id:
rs1312559544
gnomAD v2:
2-128398488-C-T
gnomAD v4:
2-127640913-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127640913C>T , CM000664.2:g.127640913C>T | GRCh38 |
| NC_000002.11:g.128398488C>T , CM000664.1:g.128398488C>T | GRCh37 |
| NC_000002.10:g.128114958C>T | NCBI36 |
| NG_042235.1:g.45874G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355119.9:c.736G>A MANE Select | ENSP00000347240.4:p.Glu246Lys | |
| ENST00000324938.9:c.808G>A | ENSP00000326888.5:p.Glu270Lys | |
| ENST00000355119.8:c.736G>A | ENSP00000347240.4:p.Glu246Lys | |
| ENST00000409254.1:c.280G>A | ENSP00000386907.1:p.Glu94Lys | |
| ENST00000409286.5:c.280G>A | ENSP00000386252.1:p.Glu94Lys | |
| ENST00000409455.5:c.721G>A | ENSP00000386383.1:p.Glu241Lys | |
| ENST00000409754.5:c.280G>A | ENSP00000386345.1:p.Glu94Lys | |
| ENST00000409808.6:c.721G>A | ENSP00000386637.2:p.Glu241Lys | |
| ENST00000410011.5:c.721G>A | ENSP00000387002.1:p.Glu241Lys | |
| ENST00000410038.5:c.280G>A | ENSP00000386570.1:p.Glu94Lys | |
| ENST00000413578.5:c.129G>A | ENSP00000388611.1:p.Ala43= | |
| ENST00000426981.5:c.219G>A | ||
| ENST00000466410.5:n.872G>A | ||
| ENST00000469300.6:n.3537G>A | ||
| ENST00000476932.5:n.1124G>A | ||
| ENST00000484252.5:n.379G>A | ||
| ENST00000545738.6:c.802G>A | ENSP00000443794.2:p.Glu268Lys | |
| ENST00000612860.4:c.460G>A | ENSP00000484949.1:p.Glu154Lys | |
| NM_001136037.2:c.802G>A | NP_001129509.2:p.Glu268Lys | |
| NM_001161403.1:c.736G>A | NP_001154875.1:p.Glu246Lys | |
| NM_001161404.1:c.721G>A | NP_001154876.1:p.Glu241Lys | |
| NM_001256542.1:c.280G>A | NP_001243471.1:p.Glu94Lys | |
| NM_017980.4:c.808G>A | NP_060450.2:p.Glu270Lys | |
| XM_005263709.2:c.721G>A | XP_005263766.1:p.Glu241Lys | |
| XM_005263710.2:c.529G>A | XP_005263767.1:p.Glu177Lys | |
| XM_006712627.2:c.388G>A | XP_006712690.1:p.Glu130Lys | |
| XM_011511453.1:c.657G>A | XP_011509755.1:p.Ala219= | |
| XR_922961.1:n.872G>A | ||
| XM_006712627.4:c.388G>A | XP_006712690.1:p.Glu130Lys | |
| XM_017004469.1:c.399G>A | XP_016859958.1:p.Ala133= | |
| XM_024452983.1:c.721G>A | XP_024308751.1:p.Glu241Lys | |
| XM_024452984.1:c.721G>A | XP_024308752.1:p.Glu241Lys | |
| XM_024452985.1:c.280G>A | XP_024308753.1:p.Glu94Lys | |
| XM_024452986.1:c.280G>A | XP_024308754.1:p.Glu94Lys | |
| XR_922961.2:n.872G>A | ||
| NM_001136037.3:c.802G>A | NP_001129509.2:p.Glu268Lys | |
| NM_001161403.2:c.736G>A | NP_001154875.1:p.Glu246Lys | |
| NM_001136037.4:c.802G>A | NP_001129509.2:p.Glu268Lys | |
| NM_001161403.3:c.736G>A MANE Select | NP_001154875.1:p.Glu246Lys | |
| NM_001161404.2:c.721G>A | NP_001154876.1:p.Glu241Lys | |
| NM_001256542.2:c.280G>A | NP_001243471.1:p.Glu94Lys | |
| NM_017980.5:c.808G>A | NP_060450.2:p.Glu270Lys |