Linked Data
dbSNP Id:
rs1416110645
gnomAD v4:
7-41965731-G-A
MyVariant Identifiers:
chr7:g.42005329G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41965731G>A , CM000669.2:g.41965731G>A | GRCh38 |
| NC_000007.13:g.42005329G>A , CM000669.1:g.42005329G>A | GRCh37 |
| NC_000007.12:g.41971854G>A | NCBI36 |
| NG_008434.1:g.276290C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.3342C>T MANE Select | ENSP00000379258.3:p.Ser1114= | |
| ENST00000677288.1:c.3168C>T | ENSP00000503986.1:p.Ser1056= | |
| ENST00000677605.1:c.3342C>T | ENSP00000503743.1:p.Ser1114= | |
| ENST00000678429.1:c.3342C>T | ENSP00000502957.1:p.Ser1114= | |
| ENST00000395925.7:c.3342C>T | ENSP00000379258.3:p.Ser1114= | |
| ENST00000479210.1:n.3319C>T | ||
| NM_000168.5:c.3342C>T | NP_000159.3:p.Ser1114= | |
| XM_005249703.1:c.3342C>T | XP_005249760.1:p.Ser1114= | |
| XM_005249704.2:c.3342C>T | XP_005249761.1:p.Ser1114= | |
| XM_011515272.1:c.3342C>T | XP_011513574.1:p.Ser1114= | |
| XM_011515273.1:c.3342C>T | XP_011513575.1:p.Ser1114= | |
| XM_011515274.1:c.3165C>T | XP_011513576.1:p.Ser1055= | |
| XM_011515274.2:c.3165C>T | XP_011513576.1:p.Ser1055= | |
| XM_017011997.1:c.3339C>T | XP_016867486.1:p.Ser1113= | |
| NM_000168.6:c.3342C>T MANE Select | NP_000159.3:p.Ser1114= |