Linked Data
dbSNP Id:
rs750257045
ExAC:
1:223285429 C / T
gnomAD v2:
1-223285429-C-T
gnomAD v4:
1-223112087-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.223112087C>T , CM000663.2:g.223112087C>T | GRCh38 |
| NC_000001.10:g.223285429C>T , CM000663.1:g.223285429C>T | GRCh37 |
| NC_000001.9:g.221352052C>T | NCBI36 |
| NG_016244.1:g.36196G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642603.2:c.945G>A MANE Select | ENSP00000496355.1:p.Lys315= | |
| ENST00000645434.1:c.945G>A | ENSP00000493892.1:p.Lys315= | |
| ENST00000366881.5:c.945G>A | ENSP00000355846.1:p.Lys315= | |
| ENST00000540964.5:c.945G>A | ENSP00000440643.1:p.Lys315= | |
| NM_003268.5:c.945G>A | NP_003259.2:p.Lys315= | |
| XM_005273241.3:c.945G>A | XP_005273298.2:p.Lys315= | |
| XM_005273242.3:c.945G>A | XP_005273299.2:p.Lys315= | |
| XM_005273243.3:c.945G>A | XP_005273300.2:p.Lys315= | |
| XM_006711504.2:c.945G>A | XP_006711567.1:p.Lys315= | |
| XM_006711505.2:c.945G>A | XP_006711568.1:p.Lys315= | |
| XM_006711506.2:c.945G>A | XP_006711569.1:p.Lys315= | |
| XM_011509937.1:c.945G>A | XP_011508239.1:p.Lys315= | |
| XM_005273241.4:c.945G>A | XP_005273298.2:p.Lys315= | |
| XM_005273242.4:c.945G>A | XP_005273299.2:p.Lys315= | |
| XM_005273243.4:c.945G>A | XP_005273300.2:p.Lys315= | |
| XM_006711504.3:c.945G>A | XP_006711567.1:p.Lys315= | |
| XM_006711505.3:c.945G>A | XP_006711568.1:p.Lys315= | |
| XM_006711506.3:c.945G>A | XP_006711569.1:p.Lys315= | |
| XM_011509937.2:c.945G>A | XP_011508239.1:p.Lys315= | |
| XM_017002208.1:c.945G>A | XP_016857697.1:p.Lys315= | |
| NM_003268.6:c.945G>A MANE Select | NP_003259.2:p.Lys315= |