Linked Data
ClinVar Variation Id:
356383
ClinVar RCV Id:
RCV000294143
RCV000295270
RCV000352446
RCV000391825
RCV000498284
RCV000766647
RCV003401372
dbSNP Id:
rs141254777
ExAC:
6:33133425 G / A
gnomAD v2:
6-33133425-G-A
gnomAD v3:
6-33165648-G-A
gnomAD v4:
6-33165648-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33165648G>A , CM000668.2:g.33165648G>A | GRCh38 |
| NC_000006.11:g.33133425G>A , CM000668.1:g.33133425G>A | GRCh37 |
| NC_000006.10:g.33241403G>A | NCBI36 |
| NG_011589.1:g.31821C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.457C>T | ||
| ENST00000341947.7:c.4651C>T MANE Select | ENSP00000339915.2:p.Arg1551Trp | |
| ENST00000341947.6:c.4651C>T | ENSP00000339915.2:p.Arg1551Trp | |
| ENST00000361917.5:c.4330C>T | ENSP00000355123.1:p.Arg1444Trp | |
| ENST00000374708.8:c.4393C>T | ENSP00000363840.4:p.Arg1465Trp | |
| ENST00000477772.1:n.441C>T | ||
| NM_080679.2:c.4330C>T | NP_542410.2:p.Arg1444Trp | |
| NM_080680.2:c.4651C>T | NP_542411.2:p.Arg1551Trp | |
| NM_080681.2:c.4393C>T | NP_542412.2:p.Arg1465Trp | |
| XM_011514298.1:c.3805C>T | XP_011512600.1:p.Arg1269Trp | |
| XM_011514299.1:c.3937C>T | XP_011512601.1:p.Arg1313Trp | |
| XM_011514300.1:c.3757C>T | XP_011512602.1:p.Arg1253Trp | |
| XM_011514301.1:c.3694C>T | XP_011512603.1:p.Arg1232Trp | |
| XM_011514302.1:c.3538C>T | XP_011512604.1:p.Arg1180Trp | |
| XM_011514299.2:c.3937C>T | XP_011512601.1:p.Arg1313Trp | |
| XM_011514300.2:c.3757C>T | XP_011512602.1:p.Arg1253Trp | |
| XM_011514302.2:c.3538C>T | XP_011512604.1:p.Arg1180Trp | |
| XM_017010250.1:c.4651C>T | XP_016865739.1:p.Arg1551Trp | |
| XM_017010251.2:c.3469C>T | XP_016865740.1:p.Arg1157Trp | |
| NM_080680.3:c.4651C>T MANE Select | NP_542411.2:p.Arg1551Trp | |
| NM_080681.3:c.4393C>T | NP_542412.2:p.Arg1465Trp | |
| NM_080679.3:c.4330C>T | NP_542410.2:p.Arg1444Trp |