Linked Data
ClinVar Variation Id:
1121928
ClinVar RCV Id:
RCV001452357
dbSNP Id:
rs1433972976
gnomAD v4:
6-33164963-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164963T>C , CM000668.2:g.33164963T>C | GRCh38 |
| NC_000006.11:g.33132740T>C , CM000668.1:g.33132740T>C | GRCh37 |
| NC_000006.10:g.33240718T>C | NCBI36 |
| NG_011589.1:g.32506A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.558A>G | ||
| ENST00000341947.7:c.4752A>G MANE Select | ENSP00000339915.2:p.Gly1584= | |
| ENST00000341947.6:c.4752A>G | ENSP00000339915.2:p.Gly1584= | |
| ENST00000361917.5:c.4431A>G | ENSP00000355123.1:p.Gly1477= | |
| ENST00000374708.8:c.4494A>G | ENSP00000363840.4:p.Gly1498= | |
| ENST00000477772.1:n.542A>G | ||
| NM_080679.2:c.4431A>G | NP_542410.2:p.Gly1477= | |
| NM_080680.2:c.4752A>G | NP_542411.2:p.Gly1584= | |
| NM_080681.2:c.4494A>G | NP_542412.2:p.Gly1498= | |
| XM_011514298.1:c.3906A>G | XP_011512600.1:p.Gly1302= | |
| XM_011514299.1:c.4038A>G | XP_011512601.1:p.Gly1346= | |
| XM_011514300.1:c.3858A>G | XP_011512602.1:p.Gly1286= | |
| XM_011514301.1:c.3795A>G | XP_011512603.1:p.Gly1265= | |
| XM_011514302.1:c.3639A>G | XP_011512604.1:p.Gly1213= | |
| XM_011514299.2:c.4038A>G | XP_011512601.1:p.Gly1346= | |
| XM_011514300.2:c.3858A>G | XP_011512602.1:p.Gly1286= | |
| XM_011514302.2:c.3639A>G | XP_011512604.1:p.Gly1213= | |
| XM_017010250.1:c.4752A>G | XP_016865739.1:p.Gly1584= | |
| XM_017010251.2:c.3570A>G | XP_016865740.1:p.Gly1190= | |
| NM_080680.3:c.4752A>G MANE Select | NP_542411.2:p.Gly1584= | |
| NM_080681.3:c.4494A>G | NP_542412.2:p.Gly1498= | |
| NM_080679.3:c.4431A>G | NP_542410.2:p.Gly1477= |