Linked Data
dbSNP Id:
rs760333966
ExAC:
6:107955854 G / A
gnomAD v2:
6-107955854-G-A
gnomAD v3:
6-107634650-G-A
gnomAD v4:
6-107634650-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107634650G>A , CM000668.2:g.107634650G>A | GRCh38 |
| NC_000006.11:g.107955854G>A , CM000668.1:g.107955854G>A | GRCh37 |
| NC_000006.10:g.108062547G>A | NCBI36 |
| NG_028200.1:g.149538G>A | |
| NG_028200.2:g.149538G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317357.10:c.1806G>A MANE Select | ENSP00000318900.5:p.Ser602= | |
| ENST00000317357.9:c.1806G>A | ENSP00000318900.5:p.Ser602= | |
| NM_018013.3:c.1806G>A | NP_060483.3:p.Ser602= | |
| XM_005267041.3:c.1959G>A | XP_005267098.1:p.Ser653= | |
| XM_005267042.3:c.1863G>A | XP_005267099.1:p.Ser621= | |
| XM_011535920.1:c.1959G>A | XP_011534222.1:p.Ser653= | |
| XM_011535921.1:c.1845G>A | XP_011534223.1:p.Ser615= | |
| XM_011535922.1:c.1218G>A | XP_011534224.1:p.Ser406= | |
| XM_011535923.1:c.1029G>A | XP_011534225.1:p.Ser343= | |
| XM_005267041.4:c.1959G>A | XP_005267098.1:p.Ser653= | |
| XM_005267042.4:c.1863G>A | XP_005267099.1:p.Ser621= | |
| XM_011535920.2:c.1959G>A | XP_011534222.1:p.Ser653= | |
| XM_011535921.2:c.1845G>A | XP_011534223.1:p.Ser615= | |
| XM_011535923.2:c.1029G>A | XP_011534225.1:p.Ser343= | |
| XM_017010991.1:c.1359G>A | XP_016866480.1:p.Ser453= | |
| XM_017010992.1:c.1359G>A | XP_016866481.1:p.Ser453= | |
| XM_017010993.1:c.1359G>A | XP_016866482.1:p.Ser453= | |
| XM_017010994.1:c.1359G>A | XP_016866483.1:p.Ser453= | |
| NM_018013.4:c.1806G>A MANE Select | NP_060483.3:p.Ser602= |