Linked Data
dbSNP Id:
rs747320290
ExAC:
6:107955659 C / G
gnomAD v2:
6-107955659-C-G
gnomAD v4:
6-107634455-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107634455C>G , CM000668.2:g.107634455C>G | GRCh38 |
| NC_000006.11:g.107955659C>G , CM000668.1:g.107955659C>G | GRCh37 |
| NC_000006.10:g.108062352C>G | NCBI36 |
| NG_028200.1:g.149343C>G | |
| NG_028200.2:g.149343C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317357.10:c.1611C>G MANE Select | ENSP00000318900.5:p.Ile537Met | |
| ENST00000317357.9:c.1611C>G | ENSP00000318900.5:p.Ile537Met | |
| NM_018013.3:c.1611C>G | NP_060483.3:p.Ile537Met | |
| XM_005267041.3:c.1764C>G | XP_005267098.1:p.Ile588Met | |
| XM_005267042.3:c.1668C>G | XP_005267099.1:p.Ile556Met | |
| XM_011535920.1:c.1764C>G | XP_011534222.1:p.Ile588Met | |
| XM_011535921.1:c.1650C>G | XP_011534223.1:p.Ile550Met | |
| XM_011535922.1:c.1023C>G | XP_011534224.1:p.Ile341Met | |
| XM_011535923.1:c.834C>G | XP_011534225.1:p.Ile278Met | |
| XM_005267041.4:c.1764C>G | XP_005267098.1:p.Ile588Met | |
| XM_005267042.4:c.1668C>G | XP_005267099.1:p.Ile556Met | |
| XM_011535920.2:c.1764C>G | XP_011534222.1:p.Ile588Met | |
| XM_011535921.2:c.1650C>G | XP_011534223.1:p.Ile550Met | |
| XM_011535923.2:c.834C>G | XP_011534225.1:p.Ile278Met | |
| XM_017010991.1:c.1164C>G | XP_016866480.1:p.Ile388Met | |
| XM_017010992.1:c.1164C>G | XP_016866481.1:p.Ile388Met | |
| XM_017010993.1:c.1164C>G | XP_016866482.1:p.Ile388Met | |
| XM_017010994.1:c.1164C>G | XP_016866483.1:p.Ile388Met | |
| NM_018013.4:c.1611C>G MANE Select | NP_060483.3:p.Ile537Met |