Linked Data
ClinVar Variation Id:
2170791
ClinVar RCV Id:
RCV003095602
dbSNP Id:
rs1198823967
gnomAD v4:
11-67490189-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490189C>T , CM000673.2:g.67490189C>T | GRCh38 |
| NC_000011.9:g.67257660C>T , CM000673.1:g.67257660C>T | GRCh37 |
| NC_000011.8:g.67014236C>T | NCBI36 |
| NG_008969.1:g.12156C>T , LRG_460:g.12156C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.597C>T | ||
| ENST00000528641.7:c.431C>T | ENSP00000434982.3:p.Ala144Val | |
| ENST00000529797.2:n.1132C>T | ||
| ENST00000682324.1:c.468+734C>T | ENSP00000508017.1:n.468+734C>T | |
| ENST00000682659.1:c.251C>T | ENSP00000507351.1:p.Ala84Val | |
| ENST00000682699.1:c.620C>T | ENSP00000507935.1:p.Ala207Val | |
| ENST00000683237.1:c.620C>T | ENSP00000507343.1:p.Ala207Val | |
| ENST00000683856.1:c.443C>T | ENSP00000507979.1:p.Ala148Val | |
| ENST00000684006.1:c.620C>T | ENSP00000507269.1:p.Ala207Val | |
| ENST00000684657.1:c.440C>T | ENSP00000507961.1:p.Ala147Val | |
| ENST00000279146.8:c.620C>T MANE Select | ENSP00000279146.3:p.Ala207Val | |
| ENST00000279146.7:c.620C>T | ENSP00000279146.3:p.Ala207Val | |
| ENST00000525341.1:c.272C>T | ENSP00000476993.1:p.Ala91Val | |
| ENST00000528641.6:c.431C>T | ENSP00000434982.2:p.Ala144Val | |
| NM_001302959.1:c.443C>T | NP_001289888.1:p.Ala148Val | |
| NM_001302960.1:c.620C>T | NP_001289889.1:p.Ala207Val | |
| NM_003977.3:c.620C>T | NP_003968.3:p.Ala207Val | |
| XM_024448761.1:c.620C>T | XP_024304529.1:p.Ala207Val | |
| NM_003977.4:c.620C>T MANE Select | NP_003968.3:p.Ala207Val | |
| NM_001302960.2:c.620C>T | NP_001289889.1:p.Ala207Val | |
| NM_001302959.2:c.443C>T | NP_001289888.1:p.Ala148Val |