Linked Data
ClinVar Variation Id:
232828
ClinVar RCV Id:
RCV003477750
dbSNP Id:
rs571292356
ExAC:
5:228417 A / G
gnomAD v2:
5-228417-A-G
gnomAD v3:
5-228302-A-G
gnomAD v4:
5-228302-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.228302A>G , CM000667.2:g.228302A>G | GRCh38 |
| NC_000005.9:g.228417A>G , CM000667.1:g.228417A>G | GRCh37 |
| NC_000005.8:g.281417A>G | NCBI36 |
| NG_012339.1:g.15062A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264932.11:c.739A>G MANE Select | ENSP00000264932.6:p.Ile247Val | |
| ENST00000651543.1:c.739A>G | ENSP00000499215.1:p.Ile247Val | |
| ENST00000264932.10:c.739A>G | ENSP00000264932.6:p.Ile247Val | |
| ENST00000504309.5:c.739A>G | ENSP00000426514.1:p.Ile247Val | |
| ENST00000504824.5:n.724A>G | ||
| ENST00000505555.5:n.779A>G | ||
| ENST00000509420.5:n.533A>G | ||
| ENST00000510361.5:c.595A>G | ENSP00000427703.1:p.Ile199Val | |
| ENST00000514027.5:n.694A>G | ||
| ENST00000514233.1:n.249A>G | ||
| ENST00000617470.4:c.381-2619A>G | ENSP00000484230.1:n.381-2619A>G | |
| NM_001294332.1:c.595A>G | NP_001281261.1:p.Ile199Val | |
| NM_004168.3:c.739A>G | NP_004159.2:p.Ile247Val | |
| XM_005248331.2:c.739A>G | XP_005248388.1:p.Ile247Val | |
| XM_011514072.1:c.739A>G | XP_011512374.1:p.Ile247Val | |
| XM_011514073.1:c.739A>G | XP_011512375.1:p.Ile247Val | |
| XR_925638.1:n.872A>G | ||
| NM_001330758.1:c.739A>G | NP_001317687.1:p.Ile247Val | |
| XM_011514072.2:c.739A>G | XP_011512374.1:p.Ile247Val | |
| XM_011514073.2:c.739A>G | XP_011512375.1:p.Ile247Val | |
| XM_017009685.2:c.739A>G | XP_016865174.1:p.Ile247Val | |
| XM_024446143.1:c.595A>G | XP_024301911.1:p.Ile199Val | |
| XR_002956167.1:n.786A>G | ||
| NM_004168.4:c.739A>G MANE Select | NP_004159.2:p.Ile247Val | |
| NM_001294332.2:c.595A>G | NP_001281261.1:p.Ile199Val | |
| NM_001330758.2:c.739A>G | NP_001317687.1:p.Ile247Val |