Linked Data
ClinVar Variation Id:
17108
ClinVar RCV Id:
RCV000018643
dbSNP Id:
rs121912953
gnomAD v2:
16-55516969-G-A
gnomAD v4:
16-55483057-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55483057G>A , CM000678.2:g.55483057G>A | GRCh38 |
| NC_000016.9:g.55516969G>A , CM000678.1:g.55516969G>A | GRCh37 |
| NC_000016.8:g.54074470G>A | NCBI36 |
| NG_008989.1:g.8889G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219070.9:c.302G>A MANE Select | ENSP00000219070.4:p.Arg101His | |
| ENST00000219070.8:c.302G>A | ENSP00000219070.4:p.Arg101His | |
| ENST00000437642.6:c.152G>A | ENSP00000394237.2:p.Arg51His | |
| ENST00000543485.5:c.74G>A | ENSP00000444143.1:p.Arg25His | |
| ENST00000564864.5:c.74G>A | ENSP00000456096.1:p.Arg25His | |
| ENST00000568715.5:c.74G>A | ENSP00000457949.1:p.Arg25His | |
| ENST00000570308.5:c.74G>A | ENSP00000461421.1:p.Arg25His | |
| NM_001127891.2:c.152G>A | NP_001121363.1:p.Arg51His | |
| NM_001302508.1:c.74G>A | NP_001289437.1:p.Arg25His | |
| NM_001302509.1:c.74G>A | NP_001289438.1:p.Arg25His | |
| NM_001302510.1:c.74G>A | NP_001289439.1:p.Arg25His | |
| NM_004530.5:c.302G>A | NP_004521.1:p.Arg101His | |
| NM_004530.6:c.302G>A MANE Select | NP_004521.1:p.Arg101His | |
| NM_001127891.3:c.152G>A | NP_001121363.1:p.Arg51His | |
| NM_001302509.2:c.74G>A | NP_001289438.1:p.Arg25His | |
| NM_001302510.2:c.74G>A | NP_001289439.1:p.Arg25His |