Linked Data
ClinVar Variation Id:
1441709
dbSNP Id:
rs1474961573
gnomAD v2:
11-61725764-G-C
gnomAD v3:
11-61958292-G-C
gnomAD v4:
11-61958292-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61958292G>C , CM000673.2:g.61958292G>C | GRCh38 |
| NC_000011.9:g.61725764G>C , CM000673.1:g.61725764G>C | GRCh37 |
| NC_000011.8:g.61482340G>C | NCBI36 |
| NG_009033.1:g.13409G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.861G>C MANE Select | ENSP00000367282.4:p.Trp287Cys | |
| ENST00000378043.8:c.861G>C | ENSP00000367282.4:p.Trp287Cys | |
| ENST00000449131.6:c.681G>C | ENSP00000399709.2:p.Trp227Cys | |
| ENST00000524877.5:n.1293G>C | ||
| ENST00000524926.5:c.861G>C | ENSP00000432681.1:p.Trp287Cys | |
| ENST00000526988.1:c.543G>C | ENSP00000433195.1:p.Trp181Cys | |
| ENST00000529265.5:n.784G>C | ||
| ENST00000534553.5:c.163+2341G>C | ENSP00000431189.1:n.163+2341G>C | |
| NM_001139443.1:c.681G>C | NP_001132915.1:p.Trp227Cys | |
| NM_001300786.1:c.681G>C | NP_001287715.1:p.Trp227Cys | |
| NM_001300787.1:c.681G>C | NP_001287716.1:p.Trp227Cys | |
| NM_004183.3:c.861G>C | NP_004174.1:p.Trp287Cys | |
| XM_005274210.2:c.861G>C | XP_005274267.1:p.Trp287Cys | |
| XM_005274215.2:c.543G>C | XP_005274272.1:p.Trp181Cys | |
| XM_005274216.2:c.681G>C | XP_005274273.1:p.Trp227Cys | |
| XM_005274218.3:c.543G>C | XP_005274275.1:p.Trp181Cys | |
| XM_005274219.2:c.861G>C | XP_005274276.1:p.Trp287Cys | |
| XM_005274221.2:c.714+828G>C | XP_005274278.1:n.714+828G>C | |
| XM_011545229.1:c.861G>C | XP_011543531.1:p.Trp287Cys | |
| XM_011545230.1:c.768G>C | XP_011543532.1:p.Trp256Cys | |
| XM_011545231.1:c.543G>C | XP_011543533.1:p.Trp181Cys | |
| XM_011545232.1:c.861G>C | XP_011543534.1:p.Trp287Cys | |
| NM_001363591.1:c.543G>C | NP_001350520.1:p.Trp181Cys | |
| NM_001363592.1:c.861G>C | NP_001350521.1:p.Trp287Cys | |
| NM_001363593.1:c.-315G>C | NP_001350522.1:n.-315G>C | |
| NR_134580.1:n.1441G>C | ||
| XM_005274210.4:c.861G>C | XP_005274267.1:p.Trp287Cys | |
| XM_005274215.4:c.543G>C | XP_005274272.1:p.Trp181Cys | |
| XM_005274216.4:c.681G>C | XP_005274273.1:p.Trp227Cys | |
| XM_005274219.4:c.861G>C | XP_005274276.1:p.Trp287Cys | |
| XM_005274221.4:c.714+828G>C | XP_005274278.1:n.714+828G>C | |
| XM_011545229.3:c.861G>C | XP_011543531.1:p.Trp287Cys | |
| XM_011545230.3:c.768G>C | XP_011543532.1:p.Trp256Cys | |
| XM_017018230.2:c.543G>C | XP_016873719.1:p.Trp181Cys | |
| XR_001747952.2:n.1359G>C | ||
| XR_001747953.2:n.1551G>C | ||
| XR_001747954.2:n.1404+828G>C | ||
| XR_001748245.1:n.437C>G | ||
| XR_002957249.1:n.437C>G | ||
| NM_004183.4:c.861G>C MANE Select | NP_004174.1:p.Trp287Cys | |
| NM_001139443.2:c.681G>C | NP_001132915.1:p.Trp227Cys | |
| NM_001300786.2:c.681G>C | NP_001287715.1:p.Trp227Cys | |
| NM_001300787.2:c.681G>C | NP_001287716.1:p.Trp227Cys | |
| NM_001363591.2:c.543G>C | NP_001350520.1:p.Trp181Cys | |
| NM_001363593.2:c.-315G>C | NP_001350522.1:n.-315G>C | |
| NR_134580.2:n.974G>C |