Linked Data
dbSNP Id:
rs1347578963
gnomAD v2:
6-107956104-G-A
gnomAD v4:
6-107634900-G-A
COSMIC:
COSM6012419
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107634900G>A , CM000668.2:g.107634900G>A | GRCh38 |
| NC_000006.11:g.107956104G>A , CM000668.1:g.107956104G>A | GRCh37 |
| NC_000006.10:g.108062797G>A | NCBI36 |
| NG_028200.1:g.149788G>A | |
| NG_028200.2:g.149788G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317357.10:c.2056G>A MANE Select | ENSP00000318900.5:p.Glu686Lys | |
| ENST00000317357.9:c.2056G>A | ENSP00000318900.5:p.Glu686Lys | |
| NM_018013.3:c.2056G>A | NP_060483.3:p.Glu686Lys | |
| XM_005267041.3:c.2209G>A | XP_005267098.1:p.Glu737Lys | |
| XM_005267042.3:c.2113G>A | XP_005267099.1:p.Glu705Lys | |
| XM_011535920.1:c.2209G>A | XP_011534222.1:p.Glu737Lys | |
| XM_011535921.1:c.2095G>A | XP_011534223.1:p.Glu699Lys | |
| XM_011535922.1:c.1468G>A | XP_011534224.1:p.Glu490Lys | |
| XM_011535923.1:c.1279G>A | XP_011534225.1:p.Glu427Lys | |
| XM_005267041.4:c.2209G>A | XP_005267098.1:p.Glu737Lys | |
| XM_005267042.4:c.2113G>A | XP_005267099.1:p.Glu705Lys | |
| XM_011535920.2:c.2209G>A | XP_011534222.1:p.Glu737Lys | |
| XM_011535921.2:c.2095G>A | XP_011534223.1:p.Glu699Lys | |
| XM_011535923.2:c.1279G>A | XP_011534225.1:p.Glu427Lys | |
| XM_017010991.1:c.1609G>A | XP_016866480.1:p.Glu537Lys | |
| XM_017010992.1:c.1609G>A | XP_016866481.1:p.Glu537Lys | |
| XM_017010993.1:c.1609G>A | XP_016866482.1:p.Glu537Lys | |
| XM_017010994.1:c.1609G>A | XP_016866483.1:p.Glu537Lys | |
| NM_018013.4:c.2056G>A MANE Select | NP_060483.3:p.Glu686Lys |