Linked Data
ClinVar Variation Id:
2798101
ClinVar RCV Id:
RCV003675574
dbSNP Id:
rs1391271667
gnomAD v3:
6-33164888-A-G
gnomAD v4:
6-33164888-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164888A>G , CM000668.2:g.33164888A>G | GRCh38 |
| NC_000006.11:g.33132665A>G , CM000668.1:g.33132665A>G | GRCh37 |
| NC_000006.10:g.33240643A>G | NCBI36 |
| NG_011589.1:g.32581T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.633T>C | ||
| ENST00000341947.7:c.4827T>C MANE Select | ENSP00000339915.2:p.Gly1609= | |
| ENST00000341947.6:c.4827T>C | ENSP00000339915.2:p.Gly1609= | |
| ENST00000361917.5:c.4506T>C | ENSP00000355123.1:p.Gly1502= | |
| ENST00000374708.8:c.4569T>C | ENSP00000363840.4:p.Gly1523= | |
| ENST00000477772.1:n.617T>C | ||
| NM_080679.2:c.4506T>C | NP_542410.2:p.Gly1502= | |
| NM_080680.2:c.4827T>C | NP_542411.2:p.Gly1609= | |
| NM_080681.2:c.4569T>C | NP_542412.2:p.Gly1523= | |
| XM_011514298.1:c.3981T>C | XP_011512600.1:p.Gly1327= | |
| XM_011514299.1:c.4113T>C | XP_011512601.1:p.Gly1371= | |
| XM_011514300.1:c.3933T>C | XP_011512602.1:p.Gly1311= | |
| XM_011514301.1:c.3870T>C | XP_011512603.1:p.Gly1290= | |
| XM_011514302.1:c.3714T>C | XP_011512604.1:p.Gly1238= | |
| XM_011514299.2:c.4113T>C | XP_011512601.1:p.Gly1371= | |
| XM_011514300.2:c.3933T>C | XP_011512602.1:p.Gly1311= | |
| XM_011514302.2:c.3714T>C | XP_011512604.1:p.Gly1238= | |
| XM_017010250.1:c.4827T>C | XP_016865739.1:p.Gly1609= | |
| XM_017010251.2:c.3645T>C | XP_016865740.1:p.Gly1215= | |
| NM_080680.3:c.4827T>C MANE Select | NP_542411.2:p.Gly1609= | |
| NM_080681.3:c.4569T>C | NP_542412.2:p.Gly1523= | |
| NM_080679.3:c.4506T>C | NP_542410.2:p.Gly1502= |