Linked Data
ClinVar Variation Id:
18435
ClinVar RCV Id:
RCV000005303
RCV000005304
RCV000023424
RCV000202566
RCV001331193
RCV001549550
RCV001823100
RCV001851964
dbSNP Id:
rs267607149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109784385C>T , CM000674.2:g.109784385C>T | GRCh38 |
| NC_000012.11:g.110222190C>T , CM000674.1:g.110222190C>T | GRCh37 |
| NC_000012.10:g.108706573C>T | NCBI36 |
| NG_017090.1:g.54023G>A , LRG_372:g.54023G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261740.7:c.2389G>A MANE Select | ENSP00000261740.2:p.Glu797Lys | |
| ENST00000418703.7:c.2389G>A | ENSP00000406191.2:p.Glu797Lys | |
| ENST00000674908.1:c.*1476G>A | ENSP00000502012.1:n.*1476G>A | |
| ENST00000675670.1:c.2389G>A | ENSP00000502135.1:p.Glu797Lys | |
| ENST00000261740.6:c.2389G>A | ENSP00000261740.2:p.Glu797Lys | |
| ENST00000418703.6:c.2389G>A | ENSP00000406191.2:p.Glu797Lys | |
| ENST00000536838.1:c.2287G>A | ENSP00000444336.1:p.Glu763Lys | |
| ENST00000537083.5:c.2209G>A | ENSP00000442738.1:p.Glu737Lys | |
| ENST00000538125.5:c.*772G>A | ENSP00000437449.1:n.*772G>A | |
| ENST00000541794.5:c.2248G>A | ENSP00000442167.1:p.Glu750Lys | |
| ENST00000544971.5:c.2068G>A | ENSP00000443611.1:p.Glu690Lys | |
| NM_001177428.1:c.2248G>A | NP_001170899.1:p.Glu750Lys | |
| NM_001177431.1:c.2287G>A | NP_001170902.1:p.Glu763Lys | |
| NM_001177433.1:c.2068G>A | NP_001170904.1:p.Glu690Lys | |
| NM_021625.4:c.2389G>A , LRG_372t1:c.2389G>A | NP_067638.3:p.Glu797Lys | |
| NM_147204.2:c.2209G>A | NP_671737.1:p.Glu737Lys | |
| XM_005253918.1:c.2389G>A | XP_005253975.1:p.Glu797Lys | |
| XM_011538630.1:c.2389G>A | XP_011536932.1:p.Glu797Lys | |
| XM_011538631.1:c.2248G>A | XP_011536933.1:p.Glu750Lys | |
| XM_011538632.1:c.2209G>A | XP_011536934.1:p.Glu737Lys | |
| XM_011538633.1:c.2068G>A | XP_011536935.1:p.Glu690Lys | |
| XM_011538630.2:c.2542G>A | XP_011536932.2:p.Glu848Lys | |
| XM_011538631.2:c.2401G>A | XP_011536933.2:p.Glu801Lys | |
| XM_011538632.2:c.2362G>A | XP_011536934.2:p.Glu788Lys | |
| XM_011538633.2:c.2221G>A | XP_011536935.2:p.Glu741Lys | |
| XM_017019774.1:c.2389G>A | XP_016875263.1:p.Glu797Lys | |
| NM_021625.5:c.2389G>A MANE Select | NP_067638.3:p.Glu797Lys |