Linked Data
ClinVar Variation Id:
217121
dbSNP Id:
rs768323248
ExAC:
10:97397114 C / T
gnomAD v2:
10-97397114-C-T
gnomAD v3:
10-95637357-C-T
gnomAD v4:
10-95637357-C-T
PubMed:
PMID:26026163
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95637357C>T , CM000672.2:g.95637357C>T | GRCh38 |
| NC_000010.10:g.97397114C>T , CM000672.1:g.97397114C>T | GRCh37 |
| NC_000010.9:g.97387104C>T | NCBI36 |
| NG_012258.1:g.24454G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371224.7:c.383G>A MANE Select | ENSP00000360268.2:p.Arg128His | |
| ENST00000371221.3:c.383G>A | ENSP00000360265.3:p.Arg128His | |
| ENST00000371224.6:c.383G>A | ENSP00000360268.2:p.Arg128His | |
| ENST00000483788.1:n.575G>A | ||
| NM_001017423.1:c.383G>A | NP_001017423.1:p.Arg128His | |
| NM_002860.3:c.383G>A | NP_002851.2:p.Arg128His | |
| XM_006717933.1:c.383G>A | XP_006717996.1:p.Arg128His | |
| XM_011540001.1:c.50G>A | XP_011538303.1:p.Arg17His | |
| NM_001323412.1:c.50G>A | NP_001310341.1:p.Arg17His | |
| NM_001323413.1:c.383G>A | NP_001310342.1:p.Arg128His | |
| NM_001323414.1:c.383G>A | NP_001310343.1:p.Arg128His | |
| NM_001323415.1:c.383G>A | NP_001310344.1:p.Arg128His | |
| NM_001323416.1:c.50G>A | NP_001310345.1:p.Arg17His | |
| NM_001323417.1:c.383G>A | NP_001310346.1:p.Arg128His | |
| NM_001323418.1:c.50G>A | NP_001310347.1:p.Arg17His | |
| NM_001323419.1:c.-78-3708G>A | NP_001310348.1:n.-78-3708G>A | |
| XM_024448094.1:c.383G>A | XP_024303862.1:p.Arg128His | |
| XM_024448095.1:c.383G>A | XP_024303863.1:p.Arg128His | |
| XM_024448096.1:c.383G>A | XP_024303864.1:p.Arg128His | |
| XM_024448097.1:c.50G>A | XP_024303865.1:p.Arg17His | |
| NM_002860.4:c.383G>A MANE Select | NP_002851.2:p.Arg128His | |
| NM_001017423.2:c.383G>A | NP_001017423.1:p.Arg128His | |
| NM_001323412.2:c.50G>A | NP_001310341.1:p.Arg17His | |
| NM_001323413.2:c.383G>A | NP_001310342.1:p.Arg128His | |
| NM_001323414.2:c.383G>A | NP_001310343.1:p.Arg128His | |
| NM_001323415.2:c.383G>A | NP_001310344.1:p.Arg128His | |
| NM_001323416.2:c.50G>A | NP_001310345.1:p.Arg17His | |
| NM_001323417.2:c.383G>A | NP_001310346.1:p.Arg128His | |
| NM_001323418.2:c.50G>A | NP_001310347.1:p.Arg17His | |
| NM_001323419.2:c.-78-3708G>A | NP_001310348.1:n.-78-3708G>A |