Linked Data
dbSNP Id:
rs28936409
ExAC:
4:111542459 C / T
gnomAD v2:
4-111542459-C-T
gnomAD v4:
4-110621303-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110621303C>T , CM000666.2:g.110621303C>T | GRCh38 |
| NC_000004.11:g.111542459C>T , CM000666.1:g.111542459C>T | GRCh37 |
| NC_000004.10:g.111761908C>T | NCBI36 |
| NG_007120.1:g.21050G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613094.5:c.185-2615G>A | ENSP00000484763.2:n.185-2615G>A | |
| ENST00000614423.5:c.170G>A | ENSP00000481951.2:p.Arg57Gln | |
| ENST00000616641.5:n.238G>A | ||
| ENST00000644488.2:n.242G>A | ||
| ENST00000394595.8:c.251G>A | ENSP00000378095.4:p.Arg84Gln | |
| ENST00000644488.1:n.314G>A | ||
| ENST00000644743.1:c.272G>A MANE Select | ENSP00000495061.1:p.Arg91Gln | |
| ENST00000645131.1:n.203G>A | ||
| ENST00000306732.7:c.272G>A | ENSP00000304169.3:p.Arg91Gln | |
| ENST00000354925.6:c.251G>A | ENSP00000347004.2:p.Arg84Gln | |
| ENST00000355080.9:c.113G>A | ENSP00000347192.5:p.Arg38Gln | |
| ENST00000394595.7:c.185-2615G>A | ENSP00000378095.3:n.185-2615G>A | |
| ENST00000394598.6:c.251G>A | ENSP00000378097.2:p.Arg84Gln | |
| ENST00000511837.5:c.251G>A | ENSP00000421454.1:p.Arg84Gln | |
| ENST00000511990.1:c.113G>A | ENSP00000424142.1:p.Arg38Gln | |
| ENST00000557119.2:c.272G>A | ENSP00000475617.1:p.Arg91Gln | |
| ENST00000613094.4:c.251G>A | ENSP00000484763.1:p.Arg84Gln | |
| ENST00000614423.4:c.251G>A | ENSP00000481951.1:p.Arg84Gln | |
| ENST00000616641.4:c.113G>A | ENSP00000484909.1:p.Arg38Gln | |
| NM_000325.5:c.272G>A | NP_000316.2:p.Arg91Gln | |
| NM_001204397.1:c.251G>A | NP_001191326.1:p.Arg84Gln | |
| NM_001204398.1:c.251G>A | NP_001191327.1:p.Arg84Gln | |
| NM_001204399.1:c.113G>A | NP_001191328.1:p.Arg38Gln | |
| NM_153426.2:c.251G>A | NP_700475.1:p.Arg84Gln | |
| NM_153427.2:c.113G>A | NP_700476.1:p.Arg38Gln | |
| XM_006714235.2:c.251G>A | XP_006714298.1:p.Arg84Gln | |
| XM_011532027.1:c.113G>A | XP_011530329.1:p.Arg38Gln | |
| XM_024454090.1:c.-83G>A | XP_024309858.1:n.-83G>A | |
| NM_000325.6:c.272G>A MANE Select | NP_000316.2:p.Arg91Gln | |
| NM_001204397.2:c.251G>A | NP_001191326.1:p.Arg84Gln | |
| NM_153426.3:c.251G>A | NP_700475.1:p.Arg84Gln | |
| NM_153427.3:c.113G>A | NP_700476.1:p.Arg38Gln |