Linked Data
ClinVar Variation Id:
418265
ClinVar RCV Id:
RCV000484352
dbSNP Id:
rs1064793157
gnomAD v2:
14-58934551-C-T
gnomAD v3:
14-58467833-C-T
gnomAD v4:
14-58467833-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.58467833C>T , CM000676.2:g.58467833C>T | GRCh38 |
| NC_000014.8:g.58934551C>T , CM000676.1:g.58934551C>T | GRCh37 |
| NC_000014.7:g.58004304C>T | NCBI36 |
| NG_051335.2:g.45449C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619722.5:c.2098C>T | ENSP00000481936.1:p.Arg700Ter | |
| ENST00000650845.1:n.2899C>T | ||
| ENST00000650904.1:c.2353C>T | ENSP00000498606.1:p.Arg785Ter | |
| ENST00000651759.1:c.1102C>T | ENSP00000498415.1:p.Arg368Ter | |
| ENST00000651937.1:c.*434C>T | ENSP00000498785.1:n.*434C>T | |
| ENST00000652326.2:c.2353C>T MANE Select | ENSP00000498929.1:p.Arg785Ter | |
| ENST00000652414.1:c.457C>T | ENSP00000498397.1:p.Arg153Ter | |
| ENST00000652732.1:c.*1919C>T | ENSP00000498799.1:n.*1919C>T | |
| ENST00000261244.9:c.2125C>T | ENSP00000261244.5:p.Arg709Ter | |
| ENST00000354386.10:c.2512C>T | ENSP00000346359.6:p.Arg838Ter | |
| ENST00000423743.7:c.2221C>T | ENSP00000399427.3:p.Arg741Ter | |
| ENST00000538571.6:n.1943C>T | ||
| ENST00000556134.5:c.2221C>T | ENSP00000452351.2:p.Arg741Ter | |
| ENST00000619416.4:c.2308C>T | ENSP00000478083.1:p.Arg770Ter | |
| ENST00000619722.4:c.2098C>T | ENSP00000481936.1:p.Arg700Ter | |
| NM_001244189.1:c.2512C>T | NP_001231118.1:p.Arg838Ter | |
| NM_001244190.1:c.2308C>T | NP_001231119.1:p.Arg770Ter | |
| NM_001244191.1:c.2098C>T | NP_001231120.1:p.Arg700Ter | |
| NM_001244192.1:c.2221C>T | NP_001231121.1:p.Arg741Ter | |
| NM_001244193.1:c.1933C>T | NP_001231122.1:p.Arg645Ter | |
| NM_014749.3:c.2125C>T | NP_055564.3:p.Arg709Ter | |
| NM_001329943.2:c.2353C>T | NP_001316872.1:p.Arg785Ter | |
| NM_001329944.1:c.2353C>T | NP_001316873.1:p.Arg785Ter | |
| NM_001329945.1:c.2098C>T | NP_001316874.1:p.Arg700Ter | |
| NM_001329946.1:c.2353C>T | NP_001316875.1:p.Arg785Ter | |
| NM_001329947.1:c.2353C>T | NP_001316876.1:p.Arg785Ter | |
| NM_001364700.1:c.2098C>T | NP_001351629.1:p.Arg700Ter | |
| NM_001364701.1:c.2098C>T | NP_001351630.1:p.Arg700Ter | |
| NM_014749.4:c.2125C>T | NP_055564.3:p.Arg709Ter | |
| XM_024449779.1:c.2476C>T | XP_024305547.1:p.Arg826Ter | |
| XM_024449780.1:c.2377C>T | XP_024305548.1:p.Arg793Ter | |
| XM_024449781.1:c.2476C>T | XP_024305549.1:p.Arg826Ter | |
| XM_024449782.1:c.2122C>T | XP_024305550.1:p.Arg708Ter | |
| XM_024449783.1:c.2122C>T | XP_024305551.1:p.Arg708Ter | |
| XM_024449784.1:c.2122C>T | XP_024305552.1:p.Arg708Ter | |
| XM_024449785.1:c.2098C>T | XP_024305553.1:p.Arg700Ter | |
| XM_024449787.1:c.1957C>T | XP_024305555.1:p.Arg653Ter | |
| XM_024449788.1:c.1933C>T | XP_024305556.1:p.Arg645Ter | |
| XM_024449789.1:c.1933C>T | XP_024305557.1:p.Arg645Ter | |
| XM_024449791.1:c.2377C>T | XP_024305559.1:p.Arg793Ter | |
| NM_001244189.2:c.2512C>T | NP_001231118.1:p.Arg838Ter | |
| NM_001244190.2:c.2308C>T | NP_001231119.1:p.Arg770Ter | |
| NM_001244192.2:c.2221C>T | NP_001231121.1:p.Arg741Ter | |
| NM_001329943.3:c.2353C>T MANE Select | NP_001316872.1:p.Arg785Ter | |
| NM_001329944.2:c.2353C>T | NP_001316873.1:p.Arg785Ter | |
| NM_001329945.2:c.2098C>T | NP_001316874.1:p.Arg700Ter | |
| NM_001329946.2:c.2353C>T | NP_001316875.1:p.Arg785Ter | |
| NM_001329947.2:c.2353C>T | NP_001316876.1:p.Arg785Ter | |
| NM_001364701.2:c.2098C>T | NP_001351630.1:p.Arg700Ter | |
| NM_014749.5:c.2125C>T | NP_055564.3:p.Arg709Ter | |
| NM_001244191.2:c.2098C>T | NP_001231120.1:p.Arg700Ter | |
| NM_001244193.2:c.1933C>T | NP_001231122.1:p.Arg645Ter |