Linked Data
ClinVar Variation Id:
228537
dbSNP Id:
rs778962979
ExAC:
6:33132706 G / A
gnomAD v2:
6-33132706-G-A
gnomAD v3:
6-33164929-G-A
gnomAD v4:
6-33164929-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164929G>A , CM000668.2:g.33164929G>A | GRCh38 |
| NC_000006.11:g.33132706G>A , CM000668.1:g.33132706G>A | GRCh37 |
| NC_000006.10:g.33240684G>A | NCBI36 |
| NG_011589.1:g.32540C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.592C>T | ||
| ENST00000341947.7:c.4786C>T MANE Select | ENSP00000339915.2:p.Arg1596Trp | |
| ENST00000341947.6:c.4786C>T | ENSP00000339915.2:p.Arg1596Trp | |
| ENST00000361917.5:c.4465C>T | ENSP00000355123.1:p.Arg1489Trp | |
| ENST00000374708.8:c.4528C>T | ENSP00000363840.4:p.Arg1510Trp | |
| ENST00000477772.1:n.576C>T | ||
| NM_080679.2:c.4465C>T | NP_542410.2:p.Arg1489Trp | |
| NM_080680.2:c.4786C>T | NP_542411.2:p.Arg1596Trp | |
| NM_080681.2:c.4528C>T | NP_542412.2:p.Arg1510Trp | |
| XM_011514298.1:c.3940C>T | XP_011512600.1:p.Arg1314Trp | |
| XM_011514299.1:c.4072C>T | XP_011512601.1:p.Arg1358Trp | |
| XM_011514300.1:c.3892C>T | XP_011512602.1:p.Arg1298Trp | |
| XM_011514301.1:c.3829C>T | XP_011512603.1:p.Arg1277Trp | |
| XM_011514302.1:c.3673C>T | XP_011512604.1:p.Arg1225Trp | |
| XM_011514299.2:c.4072C>T | XP_011512601.1:p.Arg1358Trp | |
| XM_011514300.2:c.3892C>T | XP_011512602.1:p.Arg1298Trp | |
| XM_011514302.2:c.3673C>T | XP_011512604.1:p.Arg1225Trp | |
| XM_017010250.1:c.4786C>T | XP_016865739.1:p.Arg1596Trp | |
| XM_017010251.2:c.3604C>T | XP_016865740.1:p.Arg1202Trp | |
| NM_080680.3:c.4786C>T MANE Select | NP_542411.2:p.Arg1596Trp | |
| NM_080681.3:c.4528C>T | NP_542412.2:p.Arg1510Trp | |
| NM_080679.3:c.4465C>T | NP_542410.2:p.Arg1489Trp |