Linked Data
ClinVar Variation Id:
369657
ClinVar RCV Id:
RCV000408638
dbSNP Id:
rs1057516029
COSMIC:
COSM1063666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14290809G>T , CM000667.2:g.14290809G>T | GRCh38 |
| NC_000005.9:g.14290918G>T , CM000667.1:g.14290918G>T | GRCh37 |
| NC_000005.8:g.14343918G>T | NCBI36 |
| NG_052962.1:g.152108G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698541.1:c.634G>T | ENSP00000513786.1:p.Glu212Ter | |
| ENST00000704488.1:c.505G>T | ENSP00000515916.1:p.Glu169Ter | |
| ENST00000344204.9:c.634G>T MANE Select | ENSP00000339299.4:p.Glu212Ter | |
| ENST00000344204.8:c.634G>T | ENSP00000339299.4:p.Glu212Ter | |
| ENST00000502816.1:n.658G>T | ||
| ENST00000509967.6:c.487G>T | ENSP00000445592.1:p.Glu163Ter | |
| ENST00000512070.6:c.457G>T | ENSP00000421555.2:p.Glu153Ter | |
| NM_007118.2:c.634G>T | NP_009049.2:p.Glu212Ter | |
| XM_011514107.1:c.571G>T | XP_011512409.1:p.Glu191Ter | |
| XM_011514108.1:c.517G>T | XP_011512410.1:p.Glu173Ter | |
| XM_011514109.1:c.487G>T | XP_011512411.1:p.Glu163Ter | |
| XM_011514110.1:c.457G>T | XP_011512412.1:p.Glu153Ter | |
| XM_011514111.1:c.457G>T | XP_011512413.1:p.Glu153Ter | |
| XM_011514113.1:c.634G>T | XP_011512415.1:p.Glu212Ter | |
| XR_241714.1:n.652G>T | ||
| NM_007118.3:c.634G>T | NP_009049.2:p.Glu212Ter | |
| NR_134469.1:n.658G>T | ||
| XM_011514107.2:c.571G>T | XP_011512409.1:p.Glu191Ter | |
| XM_011514109.3:c.487G>T | XP_011512411.1:p.Glu163Ter | |
| XM_011514110.3:c.457G>T | XP_011512412.1:p.Glu153Ter | |
| XM_017009801.1:c.634G>T | XP_016865290.1:p.Glu212Ter | |
| XM_017009802.1:c.634G>T | XP_016865291.1:p.Glu212Ter | |
| XR_001742236.2:n.1010G>T | ||
| NM_007118.4:c.634G>T MANE Select | NP_009049.2:p.Glu212Ter | |
| NR_134469.2:n.1018G>T |