Linked Data
ClinVar Variation Id:
286092
dbSNP Id:
rs775641112
ExAC:
6:33143427 T / C
gnomAD v2:
6-33143427-T-C
gnomAD v3:
6-33175650-T-C
gnomAD v4:
6-33175650-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33175650T>C , CM000668.2:g.33175650T>C | GRCh38 |
| NC_000006.11:g.33143427T>C , CM000668.1:g.33143427T>C | GRCh37 |
| NC_000006.10:g.33251405T>C | NCBI36 |
| NG_011589.1:g.21819A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.873A>G | ||
| ENST00000341947.7:c.2300A>G MANE Select | ENSP00000339915.2:p.Glu767Gly | |
| ENST00000341947.6:c.2300A>G | ENSP00000339915.2:p.Glu767Gly | |
| ENST00000361917.5:c.1979A>G | ENSP00000355123.1:p.Glu660Gly | |
| ENST00000374708.8:c.2042A>G | ENSP00000363840.4:p.Glu681Gly | |
| ENST00000477772.1:n.272+1359A>G | ||
| NM_080679.2:c.1979A>G | NP_542410.2:p.Glu660Gly | |
| NM_080680.2:c.2300A>G | NP_542411.2:p.Glu767Gly | |
| NM_080681.2:c.2042A>G | NP_542412.2:p.Glu681Gly | |
| XM_011514298.1:c.1454A>G | XP_011512600.1:p.Glu485Gly | |
| XM_011514299.1:c.1586A>G | XP_011512601.1:p.Glu529Gly | |
| XM_011514300.1:c.1406A>G | XP_011512602.1:p.Glu469Gly | |
| XM_011514301.1:c.1343A>G | XP_011512603.1:p.Glu448Gly | |
| XM_011514302.1:c.1187A>G | XP_011512604.1:p.Glu396Gly | |
| XM_011514299.2:c.1586A>G | XP_011512601.1:p.Glu529Gly | |
| XM_011514300.2:c.1406A>G | XP_011512602.1:p.Glu469Gly | |
| XM_011514302.2:c.1187A>G | XP_011512604.1:p.Glu396Gly | |
| XM_017010250.1:c.2300A>G | XP_016865739.1:p.Glu767Gly | |
| XM_017010251.2:c.1118A>G | XP_016865740.1:p.Glu373Gly | |
| NM_080680.3:c.2300A>G MANE Select | NP_542411.2:p.Glu767Gly | |
| NM_080681.3:c.2042A>G | NP_542412.2:p.Glu681Gly | |
| NM_080679.3:c.1979A>G | NP_542410.2:p.Glu660Gly |