Linked Data
ClinVar Variation Id:
2069650
ClinVar RCV Id:
RCV002958882
dbSNP Id:
rs1277560524
gnomAD v2:
1-100357211-G-A
gnomAD v4:
1-99891655-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99891655G>A , CM000663.2:g.99891655G>A | GRCh38 |
| NC_000001.10:g.100357211G>A , CM000663.1:g.100357211G>A | GRCh37 |
| NC_000001.9:g.100129799G>A | NCBI36 |
| NG_012865.1:g.46572G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.2999G>A MANE Select | ENSP00000355106.3:p.Arg1000His | |
| ENST00000637337.1:n.3210G>A | ||
| ENST00000294724.8:c.2999G>A | ENSP00000294724.4:p.Arg1000His | |
| ENST00000361302.7:c.2951G>A | ENSP00000354971.3:p.Arg984His | |
| ENST00000361522.4:c.2948G>A | ENSP00000354635.4:p.Arg983His | |
| ENST00000361915.7:c.2999G>A | ENSP00000355106.3:p.Arg1000His | |
| ENST00000370161.6:c.2951G>A | ENSP00000359180.2:p.Arg984His | |
| ENST00000370163.7:c.2999G>A | ENSP00000359182.3:p.Arg1000His | |
| ENST00000370165.7:c.2999G>A | ENSP00000359184.3:p.Arg1000His | |
| NM_000028.2:c.2999G>A | NP_000019.2:p.Arg1000His | |
| NM_000642.2:c.2999G>A | NP_000633.2:p.Arg1000His | |
| NM_000643.2:c.2999G>A | NP_000634.2:p.Arg1000His | |
| NM_000644.2:c.2999G>A | NP_000635.2:p.Arg1000His | |
| NM_000645.2:c.2948G>A | NP_000636.2:p.Arg983His | |
| NM_000646.2:c.2951G>A | NP_000637.2:p.Arg984His | |
| XM_005270557.1:c.2999G>A | XP_005270614.1:p.Arg1000His | |
| XM_005270557.2:c.2999G>A | XP_005270614.1:p.Arg1000His | |
| XM_017000501.2:c.1259G>A | XP_016855990.1:p.Arg420His | |
| NM_000642.3:c.2999G>A MANE Select | NP_000633.2:p.Arg1000His |