Linked Data
ClinVar Variation Id:
46556
ClinVar RCV Id:
RCV000039826
RCV000268570
RCV000305029
RCV000319689
RCV000359665
RCV000659336
RCV000709864
dbSNP Id:
rs145499142
ExAC:
6:33146747 G / A
gnomAD v2:
6-33146747-G-A
gnomAD v3:
6-33178970-G-A
gnomAD v4:
6-33178970-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33178970G>A , CM000668.2:g.33178970G>A | GRCh38 |
| NC_000006.11:g.33146747G>A , CM000668.1:g.33146747G>A | GRCh37 |
| NC_000006.10:g.33254725G>A | NCBI36 |
| NG_011589.1:g.18499C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.242C>T | ||
| ENST00000341947.7:c.1615C>T MANE Select | ENSP00000339915.2:p.Arg539Trp | |
| ENST00000341947.6:c.1615C>T | ENSP00000339915.2:p.Arg539Trp | |
| ENST00000361917.5:c.1294C>T | ENSP00000355123.1:p.Arg432Trp | |
| ENST00000374708.8:c.1357C>T | ENSP00000363840.4:p.Arg453Trp | |
| ENST00000457788.5:c.1615C>T | ENSP00000405520.1:p.Arg539Trp | |
| NM_080679.2:c.1294C>T | NP_542410.2:p.Arg432Trp | |
| NM_080680.2:c.1615C>T | NP_542411.2:p.Arg539Trp | |
| NM_080681.2:c.1357C>T | NP_542412.2:p.Arg453Trp | |
| XM_011514298.1:c.769C>T | XP_011512600.1:p.Arg257Trp | |
| XM_011514299.1:c.901C>T | XP_011512601.1:p.Arg301Trp | |
| XM_011514300.1:c.721C>T | XP_011512602.1:p.Arg241Trp | |
| XM_011514301.1:c.658C>T | XP_011512603.1:p.Arg220Trp | |
| XM_011514302.1:c.502C>T | XP_011512604.1:p.Arg168Trp | |
| XM_011514299.2:c.901C>T | XP_011512601.1:p.Arg301Trp | |
| XM_011514300.2:c.721C>T | XP_011512602.1:p.Arg241Trp | |
| XM_011514302.2:c.502C>T | XP_011512604.1:p.Arg168Trp | |
| XM_017010250.1:c.1615C>T | XP_016865739.1:p.Arg539Trp | |
| XM_017010251.2:c.433C>T | XP_016865740.1:p.Arg145Trp | |
| NM_080680.3:c.1615C>T MANE Select | NP_542411.2:p.Arg539Trp | |
| NM_080681.3:c.1357C>T | NP_542412.2:p.Arg453Trp | |
| NM_080679.3:c.1294C>T | NP_542410.2:p.Arg432Trp |