Linked Data
ClinVar Variation Id:
198337
ClinVar RCV Id:
RCV000218581
RCV000320721
RCV000328722
RCV000377623
RCV000381022
RCV000724415
RCV004545755
dbSNP Id:
rs145343609
ExAC:
6:33133424 C / T
gnomAD v2:
6-33133424-C-T
gnomAD v3:
6-33165647-C-T
gnomAD v4:
6-33165647-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33165647C>T , CM000668.2:g.33165647C>T | GRCh38 |
| NC_000006.11:g.33133424C>T , CM000668.1:g.33133424C>T | GRCh37 |
| NC_000006.10:g.33241402C>T | NCBI36 |
| NG_011589.1:g.31822G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.458G>A | ||
| ENST00000341947.7:c.4652G>A MANE Select | ENSP00000339915.2:p.Arg1551Gln | |
| ENST00000341947.6:c.4652G>A | ENSP00000339915.2:p.Arg1551Gln | |
| ENST00000361917.5:c.4331G>A | ENSP00000355123.1:p.Arg1444Gln | |
| ENST00000374708.8:c.4394G>A | ENSP00000363840.4:p.Arg1465Gln | |
| ENST00000477772.1:n.442G>A | ||
| NM_080679.2:c.4331G>A | NP_542410.2:p.Arg1444Gln | |
| NM_080680.2:c.4652G>A | NP_542411.2:p.Arg1551Gln | |
| NM_080681.2:c.4394G>A | NP_542412.2:p.Arg1465Gln | |
| XM_011514298.1:c.3806G>A | XP_011512600.1:p.Arg1269Gln | |
| XM_011514299.1:c.3938G>A | XP_011512601.1:p.Arg1313Gln | |
| XM_011514300.1:c.3758G>A | XP_011512602.1:p.Arg1253Gln | |
| XM_011514301.1:c.3695G>A | XP_011512603.1:p.Arg1232Gln | |
| XM_011514302.1:c.3539G>A | XP_011512604.1:p.Arg1180Gln | |
| XM_011514299.2:c.3938G>A | XP_011512601.1:p.Arg1313Gln | |
| XM_011514300.2:c.3758G>A | XP_011512602.1:p.Arg1253Gln | |
| XM_011514302.2:c.3539G>A | XP_011512604.1:p.Arg1180Gln | |
| XM_017010250.1:c.4652G>A | XP_016865739.1:p.Arg1551Gln | |
| XM_017010251.2:c.3470G>A | XP_016865740.1:p.Arg1157Gln | |
| NM_080680.3:c.4652G>A MANE Select | NP_542411.2:p.Arg1551Gln | |
| NM_080681.3:c.4394G>A | NP_542412.2:p.Arg1465Gln | |
| NM_080679.3:c.4331G>A | NP_542410.2:p.Arg1444Gln |