Linked Data
ClinVar Variation Id:
376386
ClinVar RCV Id:
RCV000417475
RCV000418109
RCV000422899
RCV000423976
RCV000428142
RCV000430512
RCV000434630
RCV000436449
RCV000438833
RCV000440084
RCV000441248
dbSNP Id:
rs1057519884
COSMIC:
COSM88738
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3738616C>A , CM000678.2:g.3738616C>A | GRCh38 |
| NC_000016.9:g.3788617C>A , CM000678.1:g.3788617C>A | GRCh37 |
| NC_000016.8:g.3728618C>A | NCBI36 |
| NG_009873.1:g.146505G>T | |
| NG_009873.2:g.147098G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262367.10:c.4337G>T MANE Select | ENSP00000262367.5:p.Arg1446Leu | |
| ENST00000262367.9:c.4337G>T | ENSP00000262367.5:p.Arg1446Leu | |
| ENST00000382070.7:c.4223G>T | ENSP00000371502.3:p.Arg1408Leu | |
| ENST00000570939.2:c.2972G>T | ENSP00000461002.2:p.Arg991Leu | |
| ENST00000574740.1:n.215+1783G>T | ||
| ENST00000576720.1:n.3217+962G>T | ||
| NM_001079846.1:c.4223G>T | NP_001073315.1:p.Arg1408Leu | |
| NM_004380.2:c.4337G>T | NP_004371.2:p.Arg1446Leu | |
| XM_005255124.3:c.4292G>T | XP_005255181.1:p.Arg1431Leu | |
| XM_005255125.3:c.3920G>T | XP_005255182.1:p.Arg1307Leu | |
| XM_006720848.2:c.4133+1783G>T | XP_006720911.1:n.4133+1783G>T | |
| XM_011522380.1:c.4283G>T | XP_011520682.1:p.Arg1428Leu | |
| XM_011522381.1:c.3584G>T | XP_011520683.1:p.Arg1195Leu | |
| XM_005255124.4:c.4292G>T | XP_005255181.1:p.Arg1431Leu | |
| XM_005255125.4:c.3920G>T | XP_005255182.1:p.Arg1307Leu | |
| XM_006720848.3:c.4133+1783G>T | XP_006720911.1:n.4133+1783G>T | |
| XM_011522381.2:c.3584G>T | XP_011520683.1:p.Arg1195Leu | |
| XM_017022944.1:c.4331G>T | XP_016878433.1:p.Arg1444Leu | |
| NM_004380.3:c.4337G>T MANE Select | NP_004371.2:p.Arg1446Leu |