Linked Data
ClinVar Variation Id:
2751123
ClinVar RCV Id:
RCV003563791
MyVariant Identifiers:
chr6:g.33132740T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164963T>A , CM000668.2:g.33164963T>A | GRCh38 |
| NC_000006.11:g.33132740T>A , CM000668.1:g.33132740T>A | GRCh37 |
| NC_000006.10:g.33240718T>A | NCBI36 |
| NG_011589.1:g.32506A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.558A>T | ||
| ENST00000341947.7:c.4752A>T MANE Select | ENSP00000339915.2:p.Gly1584= | |
| ENST00000341947.6:c.4752A>T | ENSP00000339915.2:p.Gly1584= | |
| ENST00000361917.5:c.4431A>T | ENSP00000355123.1:p.Gly1477= | |
| ENST00000374708.8:c.4494A>T | ENSP00000363840.4:p.Gly1498= | |
| ENST00000477772.1:n.542A>T | ||
| NM_080679.2:c.4431A>T | NP_542410.2:p.Gly1477= | |
| NM_080680.2:c.4752A>T | NP_542411.2:p.Gly1584= | |
| NM_080681.2:c.4494A>T | NP_542412.2:p.Gly1498= | |
| XM_011514298.1:c.3906A>T | XP_011512600.1:p.Gly1302= | |
| XM_011514299.1:c.4038A>T | XP_011512601.1:p.Gly1346= | |
| XM_011514300.1:c.3858A>T | XP_011512602.1:p.Gly1286= | |
| XM_011514301.1:c.3795A>T | XP_011512603.1:p.Gly1265= | |
| XM_011514302.1:c.3639A>T | XP_011512604.1:p.Gly1213= | |
| XM_011514299.2:c.4038A>T | XP_011512601.1:p.Gly1346= | |
| XM_011514300.2:c.3858A>T | XP_011512602.1:p.Gly1286= | |
| XM_011514302.2:c.3639A>T | XP_011512604.1:p.Gly1213= | |
| XM_017010250.1:c.4752A>T | XP_016865739.1:p.Gly1584= | |
| XM_017010251.2:c.3570A>T | XP_016865740.1:p.Gly1190= | |
| NM_080680.3:c.4752A>T MANE Select | NP_542411.2:p.Gly1584= | |
| NM_080681.3:c.4494A>T | NP_542412.2:p.Gly1498= | |
| NM_080679.3:c.4431A>T | NP_542410.2:p.Gly1477= |