Linked Data
ClinVar Variation Id:
1009246
ClinVar RCV Id:
RCV001306705
dbSNP Id:
rs1474925980
gnomAD v2:
1-11307963-C-T
gnomAD v3:
1-11247906-C-T
gnomAD v4:
1-11247906-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11247906C>T , CM000663.2:g.11247906C>T | GRCh38 |
| NC_000001.10:g.11307963C>T , CM000663.1:g.11307963C>T | GRCh37 |
| NC_000001.9:g.11230550C>T | NCBI36 |
| NG_033239.1:g.19646G>A , LRG_734:g.19646G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703118.1:c.1029G>A | ENSP00000515181.1:p.Met343Ile | |
| ENST00000703132.1:n.1010G>A | ||
| ENST00000703140.1:c.1029G>A | ENSP00000515197.1:p.Met343Ile | |
| ENST00000703141.1:c.1029G>A | ENSP00000515198.1:p.Met343Ile | |
| ENST00000703142.1:c.1029G>A | ENSP00000515199.1:p.Met343Ile | |
| ENST00000703143.1:c.1029G>A | ENSP00000515200.1:p.Met343Ile | |
| ENST00000361445.9:c.1029G>A MANE Select | ENSP00000354558.4:p.Met343Ile | |
| ENST00000361445.8:c.1029G>A | ENSP00000354558.4:p.Met343Ile | |
| NM_004958.3:c.1029G>A , LRG_734t1:c.1029G>A | NP_004949.1:p.Met343Ile | |
| XM_005263438.1:c.1029G>A | XP_005263495.1:p.Met343Ile | |
| XM_011541166.1:c.1029G>A | XP_011539468.1:p.Met343Ile | |
| XR_244786.1:n.1150G>A | ||
| XM_005263438.2:c.1029G>A | XP_005263495.1:p.Met343Ile | |
| XM_011541166.2:c.1029G>A | XP_011539468.1:p.Met343Ile | |
| XM_017000900.1:c.348G>A | XP_016856389.1:p.Met116Ile | |
| XM_017000901.1:c.-111G>A | XP_016856390.1:n.-111G>A | |
| XM_017000902.1:c.1029G>A | XP_016856391.1:p.Met343Ile | |
| XM_024446187.1:c.1029G>A | XP_024301955.1:p.Met343Ile | |
| XR_001737087.1:n.1150G>A | ||
| NM_004958.4:c.1029G>A MANE Select | NP_004949.1:p.Met343Ile | |
| NM_001386500.1:c.1029G>A | NP_001373429.1:p.Met343Ile | |
| NM_001386501.1:c.-111G>A | NP_001373430.1:n.-111G>A |