Linked Data
ClinVar Variation Id:
41214
dbSNP Id:
rs148986773
ExAC:
11:67258367 C / T
gnomAD v2:
11-67258367-C-T
gnomAD v3:
11-67490896-C-T
gnomAD v4:
11-67490896-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490896C>T , CM000673.2:g.67490896C>T | GRCh38 |
| NC_000011.9:g.67258367C>T , CM000673.1:g.67258367C>T | GRCh37 |
| NC_000011.8:g.67014943C>T | NCBI36 |
| NG_008969.1:g.12863C>T , LRG_460:g.12863C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.1203C>T | ||
| ENST00000528641.7:c.707C>T | ENSP00000434982.3:p.Ala236Val | |
| ENST00000529797.2:n.1738C>T | ||
| ENST00000682324.1:c.469-101C>T | ENSP00000508017.1:n.469-101C>T | |
| ENST00000682659.1:c.527C>T | ENSP00000507351.1:p.Ala176Val | |
| ENST00000682699.1:c.896C>T | ENSP00000507935.1:p.Ala299Val | |
| ENST00000683237.1:c.*36C>T | ENSP00000507343.1:n.*36C>T | |
| ENST00000683856.1:c.719C>T | ENSP00000507979.1:p.Ala240Val | |
| ENST00000684006.1:c.*36C>T | ENSP00000507269.1:n.*36C>T | |
| ENST00000684657.1:c.716C>T | ENSP00000507961.1:p.Ala239Val | |
| ENST00000279146.8:c.896C>T MANE Select | ENSP00000279146.3:p.Ala299Val | |
| ENST00000279146.7:c.896C>T | ENSP00000279146.3:p.Ala299Val | |
| NM_001302959.1:c.719C>T | NP_001289888.1:p.Ala240Val | |
| NM_001302960.1:c.*36C>T | NP_001289889.1:n.*36C>T | |
| NM_003977.3:c.896C>T | NP_003968.3:p.Ala299Val | |
| XM_024448761.1:c.896C>T | XP_024304529.1:p.Ala299Val | |
| NM_003977.4:c.896C>T MANE Select | NP_003968.3:p.Ala299Val | |
| NM_001302960.2:c.*36C>T | NP_001289889.1:n.*36C>T | |
| NM_001302959.2:c.719C>T | NP_001289888.1:p.Ala240Val |