Linked Data
ClinVar Variation Id:
391128
ClinVar RCV Id:
RCV000436866
dbSNP Id:
rs534700620
ExAC:
6:33131583 G / A
gnomAD v2:
6-33131583-G-A
gnomAD v3:
6-33163806-G-A
gnomAD v4:
6-33163806-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33163806G>A , CM000668.2:g.33163806G>A | GRCh38 |
| NC_000006.11:g.33131583G>A , CM000668.1:g.33131583G>A | GRCh37 |
| NC_000006.10:g.33239561G>A | NCBI36 |
| NG_011589.1:g.33663C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.889C>T | ||
| ENST00000341947.7:c.5083C>T MANE Select | ENSP00000339915.2:p.Arg1695Trp | |
| ENST00000341947.6:c.5083C>T | ENSP00000339915.2:p.Arg1695Trp | |
| ENST00000361917.5:c.4762C>T | ENSP00000355123.1:p.Arg1588Trp | |
| ENST00000374708.8:c.4825C>T | ENSP00000363840.4:p.Arg1609Trp | |
| ENST00000477772.1:n.873C>T | ||
| NM_080679.2:c.4762C>T | NP_542410.2:p.Arg1588Trp | |
| NM_080680.2:c.5083C>T | NP_542411.2:p.Arg1695Trp | |
| NM_080681.2:c.4825C>T | NP_542412.2:p.Arg1609Trp | |
| XM_011514298.1:c.4237C>T | XP_011512600.1:p.Arg1413Trp | |
| XM_011514299.1:c.4369C>T | XP_011512601.1:p.Arg1457Trp | |
| XM_011514300.1:c.4189C>T | XP_011512602.1:p.Arg1397Trp | |
| XM_011514301.1:c.4126C>T | XP_011512603.1:p.Arg1376Trp | |
| XM_011514302.1:c.3970C>T | XP_011512604.1:p.Arg1324Trp | |
| XM_011514299.2:c.4369C>T | XP_011512601.1:p.Arg1457Trp | |
| XM_011514300.2:c.4189C>T | XP_011512602.1:p.Arg1397Trp | |
| XM_011514302.2:c.3970C>T | XP_011512604.1:p.Arg1324Trp | |
| XM_017010250.1:c.5083C>T | XP_016865739.1:p.Arg1695Trp | |
| XM_017010251.2:c.3901C>T | XP_016865740.1:p.Arg1301Trp | |
| NM_080680.3:c.5083C>T MANE Select | NP_542411.2:p.Arg1695Trp | |
| NM_080681.3:c.4825C>T | NP_542412.2:p.Arg1609Trp | |
| NM_080679.3:c.4762C>T | NP_542410.2:p.Arg1588Trp |