Linked Data
ClinVar Variation Id:
421310
ClinVar RCV Id:
RCV000482966
dbSNP Id:
rs1064795050
COSMIC:
COSM70300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3738595A>G , CM000678.2:g.3738595A>G | GRCh38 |
| NC_000016.9:g.3788596A>G , CM000678.1:g.3788596A>G | GRCh37 |
| NC_000016.8:g.3728597A>G | NCBI36 |
| NG_009873.1:g.146526T>C | |
| NG_009873.2:g.147119T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262367.10:c.4358T>C MANE Select | ENSP00000262367.5:p.Ile1453Thr | |
| ENST00000262367.9:c.4358T>C | ENSP00000262367.5:p.Ile1453Thr | |
| ENST00000382070.7:c.4244T>C | ENSP00000371502.3:p.Ile1415Thr | |
| ENST00000570939.2:c.2993T>C | ENSP00000461002.2:p.Ile998Thr | |
| ENST00000574740.1:n.216-1780T>C | ||
| ENST00000576720.1:n.3217+983T>C | ||
| NM_001079846.1:c.4244T>C | NP_001073315.1:p.Ile1415Thr | |
| NM_004380.2:c.4358T>C | NP_004371.2:p.Ile1453Thr | |
| XM_005255124.3:c.4313T>C | XP_005255181.1:p.Ile1438Thr | |
| XM_005255125.3:c.3941T>C | XP_005255182.1:p.Ile1314Thr | |
| XM_006720848.2:c.4134-1780T>C | XP_006720911.1:n.4134-1780T>C | |
| XM_011522380.1:c.4304T>C | XP_011520682.1:p.Ile1435Thr | |
| XM_011522381.1:c.3605T>C | XP_011520683.1:p.Ile1202Thr | |
| XM_005255124.4:c.4313T>C | XP_005255181.1:p.Ile1438Thr | |
| XM_005255125.4:c.3941T>C | XP_005255182.1:p.Ile1314Thr | |
| XM_006720848.3:c.4134-1780T>C | XP_006720911.1:n.4134-1780T>C | |
| XM_011522381.2:c.3605T>C | XP_011520683.1:p.Ile1202Thr | |
| XM_017022944.1:c.4352T>C | XP_016878433.1:p.Ile1451Thr | |
| NM_004380.3:c.4358T>C MANE Select | NP_004371.2:p.Ile1453Thr |