Linked Data
ClinVar Variation Id:
426226
dbSNP Id:
rs369576521
ExAC:
3:123512540 G / A
gnomAD v2:
3-123512540-G-A
gnomAD v3:
3-123793693-G-A
gnomAD v4:
3-123793693-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123793693G>A , CM000665.2:g.123793693G>A | GRCh38 |
| NC_000003.11:g.123512540G>A , CM000665.1:g.123512540G>A | GRCh37 |
| NC_000003.10:g.124995230G>A | NCBI36 |
| NG_029111.1:g.95610C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346322.10:c.149C>T | ENSP00000320622.6:p.Ala50Val | |
| ENST00000510571.2:c.149C>T | ENSP00000509883.1:p.Ala50Val | |
| ENST00000686406.1:c.149C>T | ENSP00000509044.1:p.Ala50Val | |
| ENST00000686761.1:c.149C>T | ENSP00000508758.1:p.Ala50Val | |
| ENST00000687848.1:c.179C>T | ENSP00000508761.1:p.Ala60Val | |
| ENST00000690457.1:c.149C>T | ENSP00000508777.1:p.Ala50Val | |
| ENST00000693689.1:c.149C>T | ENSP00000510503.1:p.Ala50Val | |
| ENST00000360304.8:c.149C>T MANE Select | ENSP00000353452.3:p.Ala50Val | |
| ENST00000346322.9:c.149C>T | ENSP00000320622.5:p.Ala50Val | |
| ENST00000354792.9:c.149C>T | ENSP00000346846.6:p.Ala50Val | |
| ENST00000359169.5:c.149C>T | ENSP00000352088.1:p.Ala50Val | |
| ENST00000360304.7:c.149C>T | ENSP00000353452.3:p.Ala50Val | |
| ENST00000360772.7:c.149C>T | ENSP00000354004.3:p.Ala50Val | |
| ENST00000464489.5:c.149C>T | ENSP00000417798.1:p.Ala50Val | |
| ENST00000475616.5:c.149C>T | ENSP00000418335.1:p.Ala50Val | |
| ENST00000506361.5:n.508C>T | ||
| ENST00000510571.1:n.195C>T | ||
| NM_053025.3:c.149C>T | NP_444253.3:p.Ala50Val | |
| NM_053026.3:c.149C>T | NP_444254.3:p.Ala50Val | |
| NM_053027.3:c.149C>T | NP_444255.3:p.Ala50Val | |
| NM_053028.3:c.149C>T | NP_444256.3:p.Ala50Val | |
| XM_011512860.1:c.149C>T | XP_011511162.1:p.Ala50Val | |
| XM_011512861.1:c.149C>T | XP_011511163.1:p.Ala50Val | |
| XM_011512862.1:c.-172C>T | XP_011511164.1:n.-172C>T | |
| NM_001321309.1:c.-172C>T | NP_001308238.1:n.-172C>T | |
| XM_011512860.3:c.179C>T | XP_011511162.2:p.Ala60Val | |
| XM_011512861.3:c.179C>T | XP_011511163.2:p.Ala60Val | |
| XM_024453532.1:c.179C>T | XP_024309300.1:p.Ala60Val | |
| XM_024453533.1:c.149C>T | XP_024309301.1:p.Ala50Val | |
| XM_024453534.1:c.179C>T | XP_024309302.1:p.Ala60Val | |
| XM_024453535.1:c.149C>T | XP_024309303.1:p.Ala50Val | |
| XM_024453536.1:c.149C>T | XP_024309304.1:p.Ala50Val | |
| XM_024453537.1:c.149C>T | XP_024309305.1:p.Ala50Val | |
| NM_001321309.2:c.-172C>T | NP_001308238.1:n.-172C>T | |
| NM_053025.4:c.149C>T MANE Select | NP_444253.3:p.Ala50Val | |
| NM_053026.4:c.149C>T | NP_444254.3:p.Ala50Val | |
| NM_053027.4:c.149C>T | NP_444255.3:p.Ala50Val | |
| NM_053028.4:c.149C>T | NP_444256.3:p.Ala50Val |