Linked Data
ClinVar Variation Id:
2003072
ClinVar RCV Id:
RCV002825068
dbSNP Id:
rs766596011
ExAC:
1:154420619 C / T
gnomAD v2:
1-154420619-C-T
gnomAD v4:
1-154448143-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154448143C>T , CM000663.2:g.154448143C>T | GRCh38 |
| NC_000001.10:g.154420619C>T , CM000663.1:g.154420619C>T | GRCh37 |
| NC_000001.9:g.152687243C>T | NCBI36 |
| NG_012087.1:g.47951C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368485.8:c.968C>T MANE Select | ENSP00000357470.3:p.Ala323Val | |
| ENST00000344086.8:c.968C>T | ENSP00000340589.4:p.Ala323Val | |
| ENST00000368485.7:c.968C>T | ENSP00000357470.3:p.Ala323Val | |
| ENST00000476006.5:c.784C>T | ||
| ENST00000507256.1:n.166C>T | ||
| ENST00000515190.1:c.376C>T | ||
| NM_000565.3:c.968C>T | NP_000556.1:p.Ala323Val | |
| NM_181359.2:c.968C>T | NP_852004.1:p.Ala323Val | |
| XM_005245139.1:c.826C>T | XP_005245196.1:p.Leu276= | |
| XM_005245140.1:c.826C>T | XP_005245197.1:p.Leu276= | |
| XM_006711298.1:c.1016C>T | XP_006711361.1:p.Ala339Val | |
| XM_006711299.2:c.1016C>T | XP_006711362.1:p.Ala339Val | |
| XM_005245139.2:c.826C>T | XP_005245196.1:p.Leu276= | |
| XM_005245140.3:c.826C>T | XP_005245197.1:p.Leu276= | |
| XM_006711298.2:c.1016C>T | XP_006711361.1:p.Ala339Val | |
| XM_006711299.4:c.1016C>T | XP_006711362.1:p.Ala339Val | |
| XM_017001199.2:c.1016C>T | XP_016856688.1:p.Ala339Val | |
| XM_017001200.2:c.968C>T | XP_016856689.1:p.Ala323Val | |
| XM_017001201.2:c.826C>T | XP_016856690.1:p.Leu276= | |
| NM_000565.4:c.968C>T MANE Select | NP_000556.1:p.Ala323Val | |
| NM_181359.3:c.968C>T | NP_852004.1:p.Ala323Val | |
| NM_001382769.1:c.968C>T | NP_001369698.1:p.Ala323Val | |
| NM_001382770.1:c.1061C>T | NP_001369699.1:p.Ala354Val | |
| NM_001382771.1:c.1016C>T | NP_001369700.1:p.Ala339Val | |
| NM_001382772.1:c.962C>T | NP_001369701.1:p.Ala321Val | |
| NM_001382773.1:c.1016C>T | NP_001369702.1:p.Ala339Val | |
| NM_001382774.1:c.608C>T | NP_001369703.1:p.Ala203Val |