Linked Data
dbSNP Id:
rs1787186571
gnomAD v4:
7-41966439-C-T
MyVariant Identifiers:
chr7:g.42006037C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41966439C>T , CM000669.2:g.41966439C>T | GRCh38 |
| NC_000007.13:g.42006037C>T , CM000669.1:g.42006037C>T | GRCh37 |
| NC_000007.12:g.41972562C>T | NCBI36 |
| NG_008434.1:g.275582G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.2634G>A MANE Select | ENSP00000379258.3:p.Glu878= | |
| ENST00000677288.1:c.2460G>A | ENSP00000503986.1:p.Glu820= | |
| ENST00000677605.1:c.2634G>A | ENSP00000503743.1:p.Glu878= | |
| ENST00000678429.1:c.2634G>A | ENSP00000502957.1:p.Glu878= | |
| ENST00000395925.7:c.2634G>A | ENSP00000379258.3:p.Glu878= | |
| ENST00000479210.1:n.2611G>A | ||
| NM_000168.5:c.2634G>A | NP_000159.3:p.Glu878= | |
| XM_005249703.1:c.2634G>A | XP_005249760.1:p.Glu878= | |
| XM_005249704.2:c.2634G>A | XP_005249761.1:p.Glu878= | |
| XM_011515272.1:c.2634G>A | XP_011513574.1:p.Glu878= | |
| XM_011515273.1:c.2634G>A | XP_011513575.1:p.Glu878= | |
| XM_011515274.1:c.2457G>A | XP_011513576.1:p.Glu819= | |
| XM_011515274.2:c.2457G>A | XP_011513576.1:p.Glu819= | |
| XM_017011997.1:c.2631G>A | XP_016867486.1:p.Glu877= | |
| NM_000168.6:c.2634G>A MANE Select | NP_000159.3:p.Glu878= |