Linked Data
ClinVar Variation Id:
305926
ClinVar RCV Id:
RCV000351411
dbSNP Id:
rs200995537
gnomAD v2:
11-70858182-T-C
gnomAD v3:
11-71147136-T-C
gnomAD v4:
11-71147136-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71147136T>C , CM000673.2:g.71147136T>C | GRCh38 |
| NC_000011.9:g.70858182T>C , CM000673.1:g.70858182T>C | GRCh37 |
| NC_000011.8:g.70535830T>C | NCBI36 |
| NG_042866.1:g.82661A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000601538.6:c.191A>G MANE Select | ENSP00000469689.2:p.His64Arg | |
| ENST00000601538.5:c.191A>G | ENSP00000469689.2:p.His64Arg | |
| ENST00000608988.5:c.191A>G | ENSP00000476264.2:p.His64Arg | |
| NM_012309.4:c.191A>G | NP_036441.2:p.His64Arg | |
| XM_005277930.2:c.191A>G | XP_005277987.1:p.His64Arg | |
| XM_006718478.2:c.191A>G | XP_006718541.1:p.His64Arg | |
| XM_011544854.1:c.191A>G | XP_011543156.1:p.His64Arg | |
| XM_011544855.1:c.191A>G | XP_011543157.1:p.His64Arg | |
| XM_011544856.1:c.191A>G | XP_011543158.1:p.His64Arg | |
| XM_011544857.1:c.191A>G | XP_011543159.1:p.His64Arg | |
| XM_011544858.1:c.191A>G | XP_011543160.1:p.His64Arg | |
| XM_017017387.1:c.191A>G | XP_016872876.1:p.His64Arg | |
| XM_017017388.1:c.191A>G | XP_016872877.1:p.His64Arg | |
| XM_017017389.1:c.191A>G | XP_016872878.1:p.His64Arg | |
| NM_012309.5:c.191A>G MANE Select | NP_036441.2:p.His64Arg |