Linked Data
ClinVar Variation Id:
1330308
ClinVar RCV Id:
RCV001801339
dbSNP Id:
rs2056099559
gnomAD v3:
16-30964211-C-T
gnomAD v4:
16-30964211-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30964211C>T , CM000678.2:g.30964211C>T | GRCh38 |
| NC_000016.9:g.30975532C>T , CM000678.1:g.30975532C>T | GRCh37 |
| NC_000016.8:g.30883033C>T | NCBI36 |
| NG_052948.1:g.11918C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710314.1:c.757C>T | ENSP00000518195.1:p.Arg253Ter | |
| ENST00000682768.1:c.757C>T | ENSP00000508271.1:p.Arg253Ter | |
| ENST00000684162.1:c.757C>T | ENSP00000507683.1:p.Arg253Ter | |
| ENST00000262519.14:c.757C>T MANE Select | ENSP00000262519.8:p.Arg253Ter | |
| ENST00000262519.12:c.757C>T | ENSP00000262519.8:p.Arg253Ter | |
| NM_014712.2:c.757C>T | NP_055527.1:p.Arg253Ter | |
| XM_005255723.1:c.757C>T | XP_005255780.1:p.Arg253Ter | |
| XM_006721106.2:c.757C>T | XP_006721169.1:p.Arg253Ter | |
| XM_011545994.1:c.757C>T | XP_011544296.1:p.Arg253Ter | |
| XM_011545995.1:c.757C>T | XP_011544297.1:p.Arg253Ter | |
| XM_011545996.1:c.757C>T | XP_011544298.1:p.Arg253Ter | |
| XM_006721106.3:c.757C>T | XP_006721169.1:p.Arg253Ter | |
| XM_017023909.1:c.757C>T | XP_016879398.1:p.Arg253Ter | |
| XM_024450499.1:c.757C>T | XP_024306267.1:p.Arg253Ter | |
| NM_014712.3:c.757C>T MANE Select | NP_055527.1:p.Arg253Ter |