Linked Data
dbSNP Id:
rs200525645
ExAC:
11:46747520 G / A
gnomAD v2:
11-46747520-G-A
gnomAD v3:
11-46725970-G-A
gnomAD v4:
11-46725970-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46725970G>A , CM000673.2:g.46725970G>A | GRCh38 |
| NC_000011.9:g.46747520G>A , CM000673.1:g.46747520G>A | GRCh37 |
| NC_000011.8:g.46704096G>A | NCBI36 |
| NG_008953.1:g.11778G>A , LRG_551:g.11778G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.671G>A MANE Select | ENSP00000308541.5:p.Arg224His | |
| ENST00000311907.9:c.671G>A | ENSP00000308541.5:p.Arg224His | |
| ENST00000442468.1:c.641G>A | ENSP00000387413.1:p.Arg214His | |
| ENST00000490274.1:n.451G>A | ||
| ENST00000530231.5:c.671G>A | ENSP00000433907.1:p.Arg224His | |
| NM_000506.3:c.671G>A | NP_000497.1:p.Arg224His | |
| NM_000506.4:c.671G>A , LRG_551t1:c.671G>A | NP_000497.1:p.Arg224His | |
| NM_001311257.1:c.623G>A | NP_001298186.1:p.Arg208His | |
| XR_428840.2:n.715G>A | ||
| XR_428840.4:n.706G>A | ||
| NM_000506.5:c.671G>A MANE Select | NP_000497.1:p.Arg224His | |
| NM_001311257.2:c.623G>A | NP_001298186.1:p.Arg208His |