Linked Data
ClinVar Variation Id:
374019
ClinVar RCV Id:
RCV000415395
RCV000438149
RCV000622345
RCV001197466
RCV001253289
RCV002259339
RCV002502445
dbSNP Id:
rs200750564
gnomAD v2:
2-176959246-C-T
gnomAD v3:
2-176094518-C-T
gnomAD v4:
2-176094518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176094518C>T , CM000664.2:g.176094518C>T | GRCh38 |
| NC_000002.11:g.176959246C>T , CM000664.1:g.176959246C>T | GRCh37 |
| NC_000002.10:g.176667492C>T | NCBI36 |
| NG_008137.1:g.6715C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.820C>T MANE Select | ENSP00000376322.3:p.Arg274Ter | |
| ENST00000392539.3:c.820C>T | ENSP00000376322.3:p.Arg274Ter | |
| NM_000523.3:c.820C>T | NP_000514.2:p.Arg274Ter | |
| XM_011511068.1:c.763C>T | XP_011509370.1:p.Arg255Ter | |
| XM_011511068.2:c.763C>T | XP_011509370.1:p.Arg255Ter | |
| NM_000523.4:c.820C>T MANE Select | NP_000514.2:p.Arg274Ter |