Linked Data
ClinVar Variation Id:
465894
dbSNP Id:
rs1285435504
gnomAD v2:
6-7580243-G-A
gnomAD v3:
6-7580010-G-A
gnomAD v4:
6-7580010-G-A
COSMIC:
COSM3162693
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7580010G>A , CM000668.2:g.7580010G>A | GRCh38 |
| NC_000006.11:g.7580243G>A , CM000668.1:g.7580243G>A | GRCh37 |
| NC_000006.10:g.7525242G>A | NCBI36 |
| NG_008803.1:g.43374G>A , LRG_423:g.43374G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.3820G>A | ENSP00000518230.1:p.Ala1274Thr | |
| ENST00000379802.8:c.3820G>A MANE Select | ENSP00000369129.3:p.Ala1274Thr | |
| ENST00000379802.7:c.3820G>A | ENSP00000369129.3:p.Ala1274Thr | |
| ENST00000418664.2:c.3582+238G>A | ENSP00000396591.2:n.3582+238G>A | |
| NM_001008844.1:c.3582+238G>A | NP_001008844.1:n.3582+238G>A | |
| NM_004415.2:c.3820G>A , LRG_423t1:c.3820G>A | NP_004406.2:p.Ala1274Thr | |
| XM_011514323.1:c.3820G>A | XP_011512625.1:p.Ala1274Thr | |
| NM_001008844.2:c.3582+238G>A | NP_001008844.1:n.3582+238G>A | |
| NM_001319034.1:c.3820G>A | NP_001305963.1:p.Ala1274Thr | |
| NM_004415.3:c.3820G>A | NP_004406.2:p.Ala1274Thr | |
| NM_004415.4:c.3820G>A MANE Select | NP_004406.2:p.Ala1274Thr | |
| NM_001008844.3:c.3582+238G>A | NP_001008844.1:n.3582+238G>A | |
| NM_001319034.2:c.3820G>A | NP_001305963.1:p.Ala1274Thr |