Linked Data
ClinVar Variation Id:
178321
ClinVar RCV Id:
RCV000155065
RCV000277747
RCV000271332
RCV000381519
RCV000427587
RCV000680464
RCV000326882
RCV001804866
dbSNP Id:
rs146555195
ExAC:
6:33132114 C / T
gnomAD v2:
6-33132114-C-T
gnomAD v3:
6-33164337-C-T
gnomAD v4:
6-33164337-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164337C>T , CM000668.2:g.33164337C>T | GRCh38 |
| NC_000006.11:g.33132114C>T , CM000668.1:g.33132114C>T | GRCh37 |
| NC_000006.10:g.33240092C>T | NCBI36 |
| NG_011589.1:g.33132G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.806G>A | ||
| ENST00000341947.7:c.5000G>A MANE Select | ENSP00000339915.2:p.Arg1667His | |
| ENST00000341947.6:c.5000G>A | ENSP00000339915.2:p.Arg1667His | |
| ENST00000361917.5:c.4679G>A | ENSP00000355123.1:p.Arg1560His | |
| ENST00000374708.8:c.4742G>A | ENSP00000363840.4:p.Arg1581His | |
| ENST00000477772.1:n.790G>A | ||
| NM_080679.2:c.4679G>A | NP_542410.2:p.Arg1560His | |
| NM_080680.2:c.5000G>A | NP_542411.2:p.Arg1667His | |
| NM_080681.2:c.4742G>A | NP_542412.2:p.Arg1581His | |
| XM_011514298.1:c.4154G>A | XP_011512600.1:p.Arg1385His | |
| XM_011514299.1:c.4286G>A | XP_011512601.1:p.Arg1429His | |
| XM_011514300.1:c.4106G>A | XP_011512602.1:p.Arg1369His | |
| XM_011514301.1:c.4043G>A | XP_011512603.1:p.Arg1348His | |
| XM_011514302.1:c.3887G>A | XP_011512604.1:p.Arg1296His | |
| XM_011514299.2:c.4286G>A | XP_011512601.1:p.Arg1429His | |
| XM_011514300.2:c.4106G>A | XP_011512602.1:p.Arg1369His | |
| XM_011514302.2:c.3887G>A | XP_011512604.1:p.Arg1296His | |
| XM_017010250.1:c.5000G>A | XP_016865739.1:p.Arg1667His | |
| XM_017010251.2:c.3818G>A | XP_016865740.1:p.Arg1273His | |
| NM_080680.3:c.5000G>A MANE Select | NP_542411.2:p.Arg1667His | |
| NM_080681.3:c.4742G>A | NP_542412.2:p.Arg1581His | |
| NM_080679.3:c.4679G>A | NP_542410.2:p.Arg1560His |