Linked Data
dbSNP Id:
rs778359542
ExAC:
3:120357304 T / C
gnomAD v2:
3-120357304-T-C
gnomAD v4:
3-120638457-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120638457T>C , CM000665.2:g.120638457T>C | GRCh38 |
| NC_000003.11:g.120357304T>C , CM000665.1:g.120357304T>C | GRCh37 |
| NC_000003.10:g.121839994T>C | NCBI36 |
| NG_011957.1:g.49025A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.1004A>G MANE Select | ENSP00000283871.5:p.His335Arg | |
| ENST00000283871.9:c.1004A>G | ENSP00000283871.5:p.His335Arg | |
| ENST00000470321.1:n.344A>G | ||
| ENST00000475447.2:c.307+3132A>G | ||
| ENST00000492108.5:c.285+3132A>G | ENSP00000419838.1:n.285+3132A>G | |
| ENST00000494453.1:c.424A>G | ||
| NM_000187.3:c.1004A>G | NP_000178.2:p.His335Arg | |
| XM_005247412.1:c.779A>G | XP_005247469.1:p.His260Arg | |
| XM_005247413.1:c.1004A>G | XP_005247470.1:p.His335Arg | |
| XM_011512746.1:c.879+3132A>G | XP_011511048.1:n.879+3132A>G | |
| XM_005247412.2:c.779A>G | XP_005247469.1:p.His260Arg | |
| XM_005247413.2:c.1004A>G | XP_005247470.1:p.His335Arg | |
| XM_011512746.2:c.879+3132A>G | XP_011511048.1:n.879+3132A>G | |
| XM_017006277.2:c.581A>G | XP_016861766.1:p.His194Arg | |
| NM_000187.4:c.1004A>G MANE Select | NP_000178.2:p.His335Arg |