Linked Data
ClinVar Variation Id:
13820
dbSNP Id:
rs121917709
gnomAD v4:
7-41972513-G-A
PubMed:
PMID:10441570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41972513G>A , CM000669.2:g.41972513G>A | GRCh38 |
| NC_000007.13:g.42012112G>A , CM000669.1:g.42012112G>A | GRCh37 |
| NC_000007.12:g.41978637G>A | NCBI36 |
| NG_008434.1:g.269507C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395925.8:c.1927C>T MANE Select | ENSP00000379258.3:p.Arg643Ter | |
| ENST00000677288.1:c.1753C>T | ENSP00000503986.1:p.Arg585Ter | |
| ENST00000677605.1:c.1927C>T | ENSP00000503743.1:p.Arg643Ter | |
| ENST00000678429.1:c.1927C>T | ENSP00000502957.1:p.Arg643Ter | |
| ENST00000395925.7:c.1927C>T | ENSP00000379258.3:p.Arg643Ter | |
| ENST00000464291.1:n.480C>T | ||
| ENST00000479210.1:n.1904C>T | ||
| NM_000168.5:c.1927C>T | NP_000159.3:p.Arg643Ter | |
| XM_005249703.1:c.1927C>T | XP_005249760.1:p.Arg643Ter | |
| XM_005249704.2:c.1927C>T | XP_005249761.1:p.Arg643Ter | |
| XM_011515272.1:c.1927C>T | XP_011513574.1:p.Arg643Ter | |
| XM_011515273.1:c.1927C>T | XP_011513575.1:p.Arg643Ter | |
| XM_011515274.1:c.1750C>T | XP_011513576.1:p.Arg584Ter | |
| XM_011515274.2:c.1750C>T | XP_011513576.1:p.Arg584Ter | |
| XM_017011997.1:c.1924C>T | XP_016867486.1:p.Arg642Ter | |
| NM_000168.6:c.1927C>T MANE Select | NP_000159.3:p.Arg643Ter |