Linked Data
ClinVar Variation Id:
397507
dbSNP Id:
rs200001068
gnomAD v2:
4-88959475-C-T
gnomAD v3:
4-88038323-C-T
gnomAD v4:
4-88038323-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88038323C>T , CM000666.2:g.88038323C>T | GRCh38 |
| NC_000004.11:g.88959475C>T , CM000666.1:g.88959475C>T | GRCh37 |
| NC_000004.10:g.89178499C>T | NCBI36 |
| NG_008604.1:g.35656C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.916C>T MANE Select | ENSP00000237596.2:p.Arg306Ter | |
| ENST00000237596.6:c.916C>T | ENSP00000237596.2:p.Arg306Ter | |
| ENST00000506367.1:n.363C>T | ||
| ENST00000506727.1:n.502C>T | ||
| NM_000297.3:c.916C>T | NP_000288.1:p.Arg306Ter | |
| XM_011532028.1:c.916C>T | XP_011530330.1:p.Arg306Ter | |
| XM_011532029.1:c.196C>T | XP_011530331.1:p.Arg66Ter | |
| XM_011532030.1:c.76C>T | XP_011530332.1:p.Arg26Ter | |
| XR_244632.2:n.1011C>T | ||
| NR_156488.1:n.1003C>T | ||
| XM_011532028.2:c.916C>T | XP_011530330.1:p.Arg306Ter | |
| XM_011532030.2:c.76C>T | XP_011530332.1:p.Arg26Ter | |
| NM_000297.4:c.916C>T MANE Select | NP_000288.1:p.Arg306Ter | |
| NR_156488.2:n.1015C>T |