Linked Data
ClinVar Variation Id:
16847
ClinVar RCV Id:
RCV000018341
dbSNP Id:
rs121912999
gnomAD v4:
6-7585763-G-A
PubMed:
PMID:16917092
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585763G>A , CM000668.2:g.7585763G>A | GRCh38 |
| NC_000006.11:g.7585996G>A , CM000668.1:g.7585996G>A | GRCh37 |
| NC_000006.10:g.7530995G>A | NCBI36 |
| NG_008803.1:g.49127G>A , LRG_423:g.49127G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710359.1:c.7172G>A | ENSP00000518230.1:p.Arg2391His | |
| ENST00000379802.8:c.8501G>A MANE Select | ENSP00000369129.3:p.Arg2834His | |
| ENST00000379802.7:c.8501G>A | ENSP00000369129.3:p.Arg2834His | |
| ENST00000418664.2:c.6704G>A | ENSP00000396591.2:p.Arg2235His | |
| NM_001008844.1:c.6704G>A | NP_001008844.1:p.Arg2235His | |
| NM_004415.2:c.8501G>A , LRG_423t1:c.8501G>A | NP_004406.2:p.Arg2834His | |
| XM_011514323.1:c.7172G>A | XP_011512625.1:p.Arg2391His | |
| NM_001008844.2:c.6704G>A | NP_001008844.1:p.Arg2235His | |
| NM_001319034.1:c.7172G>A | NP_001305963.1:p.Arg2391His | |
| NM_004415.3:c.8501G>A | NP_004406.2:p.Arg2834His | |
| NM_004415.4:c.8501G>A MANE Select | NP_004406.2:p.Arg2834His | |
| NM_001008844.3:c.6704G>A | NP_001008844.1:p.Arg2235His | |
| NM_001319034.2:c.7172G>A | NP_001305963.1:p.Arg2391His |