Linked Data
ClinVar Variation Id:
5541
ClinVar RCV Id:
RCV000005879
RCV000171813
RCV000223897
RCV000253742
RCV000415218
RCV000538199
RCV000852657
RCV000988595
dbSNP Id:
rs17215437
ExAC:
11:74168361 C / T
gnomAD v2:
11-74168361-C-T
gnomAD v3:
11-74457316-C-T
gnomAD v4:
11-74457316-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74457316C>T , CM000673.2:g.74457316C>T | GRCh38 |
| NC_000011.9:g.74168361C>T , CM000673.1:g.74168361C>T | GRCh37 |
| NC_000011.8:g.73846009C>T | NCBI36 |
| NG_011833.1:g.15240G>A , LRG_439:g.15240G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310128.9:c.248G>A MANE Select | ENSP00000310557.4:p.Arg83His | |
| ENST00000310128.8:c.248G>A | ENSP00000310557.4:p.Arg83His | |
| ENST00000525550.1:c.248G>A | ENSP00000433633.1:p.Arg83His | |
| ENST00000532569.5:c.248G>A | ENSP00000431739.1:p.Arg83His | |
| NM_005472.4:c.248G>A , LRG_439t1:c.248G>A | NP_005463.1:p.Arg83His | |
| XM_011544713.1:c.380G>A | XP_011543015.1:p.Arg127His | |
| XM_011544713.2:c.380G>A | XP_011543015.1:p.Arg127His | |
| XM_017017047.1:c.248G>A | XP_016872536.1:p.Arg83His | |
| XM_017017048.1:c.248G>A | XP_016872537.1:p.Arg83His | |
| XM_017017049.1:c.248G>A | XP_016872538.1:p.Arg83His | |
| XM_017017051.2:c.248G>A | XP_016872540.1:p.Arg83His | |
| XM_017017052.1:c.248G>A | XP_016872541.1:p.Arg83His | |
| NM_005472.5:c.248G>A MANE Select | NP_005463.1:p.Arg83His |