Linked Data
ClinVar Variation Id:
29804
ClinVar RCV Id:
RCV000022676
dbSNP Id:
rs387906659
COSMIC:
COSM159009
PubMed:
PMID:21979934
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40257052C>T , CM000681.2:g.40257052C>T | GRCh38 |
| NC_000019.9:g.40762959C>T , CM000681.1:g.40762959C>T | GRCh37 |
| NC_000019.8:g.45454799C>T | NCBI36 |
| NG_012038.2:g.33307G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392038.7:c.49G>A MANE Select | ENSP00000375892.2:p.Glu17Lys | |
| ENST00000487537.3:n.154G>A | ||
| ENST00000672879.1:n.191G>A | ||
| ENST00000672890.1:c.49G>A | ENSP00000500412.1:p.Glu17Lys | |
| ENST00000311278.10:c.49G>A | ENSP00000309428.6:p.Glu17Lys | |
| ENST00000358335.9:c.49G>A | ENSP00000351095.5:p.Glu17Lys | |
| ENST00000391844.8:c.-128G>A | ENSP00000375719.4:n.-128G>A | |
| ENST00000392037.5:c.49G>A | ENSP00000375891.1:p.Glu17Lys | |
| ENST00000392038.6:c.49G>A | ENSP00000375892.2:p.Glu17Lys | |
| ENST00000416362.5:c.49G>A | ENSP00000407999.1:p.Glu17Lys | |
| ENST00000416994.6:c.49G>A | ENSP00000392458.2:p.Glu17Lys | |
| ENST00000423127.5:c.49G>A | ENSP00000403842.1:p.Glu17Lys | |
| ENST00000424901.5:c.49G>A | ENSP00000399532.2:p.Glu17Lys | |
| ENST00000427375.1:c.49G>A | ENSP00000403890.1:p.Glu17Lys | |
| ENST00000441941.6:c.49G>A | ENSP00000396968.2:p.Glu17Lys | |
| ENST00000452077.5:c.49G>A | ENSP00000404083.1:p.Glu17Lys | |
| ENST00000456441.5:c.49G>A | ENSP00000396532.1:p.Glu17Lys | |
| ENST00000486368.6:c.49G>A | ENSP00000463686.1:p.Glu17Lys | |
| ENST00000492463.6:c.-128G>A | ENSP00000462776.1:n.-128G>A | |
| ENST00000537834.5:n.357G>A | ||
| ENST00000578123.5:c.49G>A | ENSP00000462022.1:p.Glu17Lys | |
| ENST00000579047.5:c.-138G>A | ENSP00000471369.1:n.-138G>A | |
| ENST00000580747.5:c.49G>A | ENSP00000463806.2:p.Glu17Lys | |
| ENST00000583859.5:c.49G>A | ENSP00000462715.1:p.Glu17Lys | |
| ENST00000584288.5:c.-128G>A | ENSP00000462469.1:n.-128G>A | |
| ENST00000596634.5:c.49G>A | ENSP00000470604.1:p.Glu17Lys | |
| NM_001243027.2:c.-138G>A | NP_001229956.1:n.-138G>A | |
| NM_001243028.2:c.-138G>A | NP_001229957.1:n.-138G>A | |
| NM_001626.5:c.49G>A | NP_001617.1:p.Glu17Lys | |
| XM_011526614.1:c.49G>A | XP_011524916.1:p.Glu17Lys | |
| XM_011526615.1:c.49G>A | XP_011524917.1:p.Glu17Lys | |
| XM_011526616.1:c.49G>A | XP_011524918.1:p.Glu17Lys | |
| XM_011526617.1:c.49G>A | XP_011524919.1:p.Glu17Lys | |
| XM_011526618.1:c.49G>A | XP_011524920.1:p.Glu17Lys | |
| XM_011526619.1:c.49G>A | XP_011524921.1:p.Glu17Lys | |
| XM_011526620.1:c.49G>A | XP_011524922.1:p.Glu17Lys | |
| XM_011526621.1:c.49G>A | XP_011524923.1:p.Glu17Lys | |
| XM_011526622.1:c.49G>A | XP_011524924.1:p.Glu17Lys | |
| NM_001330511.1:c.49G>A | NP_001317440.1:p.Glu17Lys | |
| XM_011526622.2:c.49G>A | XP_011524924.1:p.Glu17Lys | |
| XM_017026470.2:c.49G>A | XP_016881959.1:p.Glu17Lys | |
| XM_024451416.1:c.49G>A | XP_024307184.1:p.Glu17Lys | |
| XM_024451417.1:c.49G>A | XP_024307185.1:p.Glu17Lys | |
| NM_001626.6:c.49G>A MANE Select | NP_001617.1:p.Glu17Lys | |
| NM_001243027.3:c.-138G>A | NP_001229956.1:n.-138G>A | |
| NM_001243028.3:c.-138G>A | NP_001229957.1:n.-138G>A |