Linked Data
ClinVar Variation Id:
436861
dbSNP Id:
rs141475605
ExAC:
4:57335900 C / T
gnomAD v2:
4-57335900-C-T
gnomAD v3:
4-56469734-C-T
gnomAD v4:
4-56469734-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.56469734C>T , CM000666.2:g.56469734C>T | GRCh38 |
| NC_000004.11:g.57335900C>T , CM000666.1:g.57335900C>T | GRCh37 |
| NC_000004.10:g.57030657C>T | NCBI36 |
| NG_032796.1:g.7139C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505314.2:c.91C>T | ||
| ENST00000510663.6:c.191C>T | ENSP00000424576.1:p.Ala64Val | |
| ENST00000642900.1:c.191C>T MANE Select | ENSP00000495128.1:p.Ala64Val | |
| ENST00000342756.9:c.191C>T | ENSP00000342181.5:p.Ala64Val | |
| ENST00000504757.2:c.191C>T | ENSP00000473576.1:p.Ala64Val | |
| ENST00000510663.5:c.191C>T | ENSP00000424576.1:p.Ala64Val | |
| NM_001267722.1:c.191C>T | NP_001254651.1:p.Ala64Val | |
| NM_006947.3:c.191C>T | NP_008878.3:p.Ala64Val | |
| XM_005265765.3:c.191C>T | XP_005265822.2:p.Ala64Val | |
| NM_006947.4:c.191C>T MANE Select | NP_008878.3:p.Ala64Val | |
| NR_151856.1:n.231C>T | ||
| XM_024454192.1:c.191C>T | XP_024309960.1:p.Ala64Val | |
| NM_001267722.2:c.191C>T | NP_001254651.1:p.Ala64Val | |
| NR_151856.2:n.210C>T |