Linked Data
ClinVar Variation Id:
93009
dbSNP Id:
rs17711594
ExAC:
5:149276063 T / G
gnomAD v2:
5-149276063-T-G
gnomAD v3:
5-149896500-T-G
gnomAD v4:
5-149896500-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149896500T>G , CM000667.2:g.149896500T>G | GRCh38 |
| NC_000005.9:g.149276063T>G , CM000667.1:g.149276063T>G | GRCh37 |
| NC_000005.8:g.149256256T>G | NCBI36 |
| NG_009102.1:g.53294A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.1476A>C MANE Select | ENSP00000255266.5:p.Gln492His | |
| ENST00000255266.9:c.1476A>C | ENSP00000255266.5:p.Gln492His | |
| ENST00000508173.5:n.1660A>C | ||
| ENST00000613228.1:c.1233A>C | ENSP00000478060.1:p.Gln411His | |
| ENST00000617647.4:c.1233A>C | ENSP00000482774.1:p.Gln411His | |
| NM_000440.2:c.1476A>C | NP_000431.2:p.Gln492His | |
| XM_011537648.1:c.1476A>C | XP_011535950.1:p.Gln492His | |
| XM_011537649.1:c.930A>C | XP_011535951.1:p.Gln310His | |
| XM_011537650.1:c.591A>C | XP_011535952.1:p.Gln197His | |
| XM_011537651.1:c.429A>C | XP_011535953.1:p.Gln143His | |
| XM_011537652.1:c.399A>C | XP_011535954.1:p.Gln133His | |
| XM_011537653.1:c.399A>C | XP_011535955.1:p.Gln133His | |
| XM_011537654.1:c.399A>C | XP_011535956.1:p.Gln133His | |
| XM_011537650.2:c.591A>C | XP_011535952.1:p.Gln197His | |
| XM_011537651.2:c.429A>C | XP_011535953.1:p.Gln143His | |
| XM_011537653.2:c.399A>C | XP_011535955.1:p.Gln133His | |
| XM_011537654.2:c.399A>C | XP_011535956.1:p.Gln133His | |
| XM_017009572.2:c.1233A>C | XP_016865061.1:p.Gln411His | |
| NM_000440.3:c.1476A>C MANE Select | NP_000431.2:p.Gln492His |