Linked Data
ClinVar Variation Id:
905130
dbSNP Id:
rs1369015834
gnomAD v2:
6-33132715-C-T
gnomAD v4:
6-33164938-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164938C>T , CM000668.2:g.33164938C>T | GRCh38 |
| NC_000006.11:g.33132715C>T , CM000668.1:g.33132715C>T | GRCh37 |
| NC_000006.10:g.33240693C>T | NCBI36 |
| NG_011589.1:g.32531G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.583G>A | ||
| ENST00000341947.7:c.4777G>A MANE Select | ENSP00000339915.2:p.Gly1593Ser | |
| ENST00000341947.6:c.4777G>A | ENSP00000339915.2:p.Gly1593Ser | |
| ENST00000361917.5:c.4456G>A | ENSP00000355123.1:p.Gly1486Ser | |
| ENST00000374708.8:c.4519G>A | ENSP00000363840.4:p.Gly1507Ser | |
| ENST00000477772.1:n.567G>A | ||
| NM_080679.2:c.4456G>A | NP_542410.2:p.Gly1486Ser | |
| NM_080680.2:c.4777G>A | NP_542411.2:p.Gly1593Ser | |
| NM_080681.2:c.4519G>A | NP_542412.2:p.Gly1507Ser | |
| XM_011514298.1:c.3931G>A | XP_011512600.1:p.Gly1311Ser | |
| XM_011514299.1:c.4063G>A | XP_011512601.1:p.Gly1355Ser | |
| XM_011514300.1:c.3883G>A | XP_011512602.1:p.Gly1295Ser | |
| XM_011514301.1:c.3820G>A | XP_011512603.1:p.Gly1274Ser | |
| XM_011514302.1:c.3664G>A | XP_011512604.1:p.Gly1222Ser | |
| XM_011514299.2:c.4063G>A | XP_011512601.1:p.Gly1355Ser | |
| XM_011514300.2:c.3883G>A | XP_011512602.1:p.Gly1295Ser | |
| XM_011514302.2:c.3664G>A | XP_011512604.1:p.Gly1222Ser | |
| XM_017010250.1:c.4777G>A | XP_016865739.1:p.Gly1593Ser | |
| XM_017010251.2:c.3595G>A | XP_016865740.1:p.Gly1199Ser | |
| NM_080680.3:c.4777G>A MANE Select | NP_542411.2:p.Gly1593Ser | |
| NM_080681.3:c.4519G>A | NP_542412.2:p.Gly1507Ser | |
| NM_080679.3:c.4456G>A | NP_542410.2:p.Gly1486Ser |