ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68911530A>G , CM000673.2:g.68911530A>G | GRCh38 |
| NC_000011.9:g.68678998A>G , CM000673.1:g.68678998A>G | GRCh37 |
| NC_000011.8:g.68435574A>G | NCBI36 |
| NG_007976.1:g.12680A>G , LRG_250:g.12680A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.638A>G MANE Select | ENSP00000255078.4:p.His213Arg | |
| ENST00000539224.2:c.601A>G | ||
| ENST00000674583.1:c.601A>G | ||
| ENST00000674955.1:c.638A>G | ENSP00000502463.1:p.His213Arg | |
| ENST00000675142.1:n.601A>G | ||
| ENST00000675615.1:c.638A>G | ENSP00000502413.1:p.His213Arg | |
| ENST00000675674.1:n.601A>G | ||
| ENST00000675683.1:c.98+2899A>G | ||
| ENST00000675873.1:c.601A>G | ||
| ENST00000676173.1:n.682A>G | ||
| ENST00000676228.1:c.540A>G | ENSP00000502375.1:p.Pro180= | |
| ENST00000255078.7:c.638A>G | ENSP00000255078.3:p.His213Arg | |
| ENST00000539224.1:c.540A>G | ENSP00000440465.1:p.Pro180= | |
| NM_002180.2:c.638A>G , LRG_250t1:c.638A>G | NP_002171.2:p.His213Arg | |
| XM_005273974.2:c.-374A>G | XP_005274031.1:n.-374A>G | |
| XM_005273976.1:c.638A>G | XP_005274033.1:p.His213Arg | |
| XR_247198.1:n.740A>G | ||
| XR_949903.1:n.740A>G | ||
| XM_005273976.2:c.638A>G | XP_005274033.1:p.His213Arg | |
| XM_017017669.2:c.-374A>G | XP_016873158.1:n.-374A>G | |
| XM_017017671.2:c.638A>G | XP_016873160.1:p.His213Arg | |
| XR_949903.3:n.736A>G | ||
| NM_002180.3:c.638A>G MANE Select | NP_002171.2:p.His213Arg |