Linked Data
ClinVar Variation Id:
6658
dbSNP Id:
rs5744168
ExAC:
1:223285200 G / A
gnomAD v2:
1-223285200-G-A
gnomAD v3:
1-223111858-G-A
gnomAD v4:
1-223111858-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.223111858G>A , CM000663.2:g.223111858G>A | GRCh38 |
| NC_000001.10:g.223285200G>A , CM000663.1:g.223285200G>A | GRCh37 |
| NC_000001.9:g.221351823G>A | NCBI36 |
| NG_016244.1:g.36425C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642603.2:c.1174C>T MANE Select | ENSP00000496355.1:p.Arg392Ter | |
| ENST00000645434.1:c.1174C>T | ENSP00000493892.1:p.Arg392Ter | |
| ENST00000366881.5:c.1174C>T | ENSP00000355846.1:p.Arg392Ter | |
| ENST00000540964.5:c.1174C>T | ENSP00000440643.1:p.Arg392Ter | |
| NM_003268.5:c.1174C>T | NP_003259.2:p.Arg392Ter | |
| XM_005273241.3:c.1174C>T | XP_005273298.2:p.Arg392Ter | |
| XM_005273242.3:c.1174C>T | XP_005273299.2:p.Arg392Ter | |
| XM_005273243.3:c.1174C>T | XP_005273300.2:p.Arg392Ter | |
| XM_006711504.2:c.1174C>T | XP_006711567.1:p.Arg392Ter | |
| XM_006711505.2:c.1174C>T | XP_006711568.1:p.Arg392Ter | |
| XM_006711506.2:c.1174C>T | XP_006711569.1:p.Arg392Ter | |
| XM_011509937.1:c.1174C>T | XP_011508239.1:p.Arg392Ter | |
| XM_005273241.4:c.1174C>T | XP_005273298.2:p.Arg392Ter | |
| XM_005273242.4:c.1174C>T | XP_005273299.2:p.Arg392Ter | |
| XM_005273243.4:c.1174C>T | XP_005273300.2:p.Arg392Ter | |
| XM_006711504.3:c.1174C>T | XP_006711567.1:p.Arg392Ter | |
| XM_006711505.3:c.1174C>T | XP_006711568.1:p.Arg392Ter | |
| XM_006711506.3:c.1174C>T | XP_006711569.1:p.Arg392Ter | |
| XM_011509937.2:c.1174C>T | XP_011508239.1:p.Arg392Ter | |
| XM_017002208.1:c.1174C>T | XP_016857697.1:p.Arg392Ter | |
| NM_003268.6:c.1174C>T MANE Select | NP_003259.2:p.Arg392Ter |