Linked Data
ClinVar Variation Id:
3040533
ClinVar RCV Id:
RCV004532025
gnomAD v4:
7-41972449-G-T
COSMIC:
COSM3394759
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41972449G>T , CM000669.2:g.41972449G>T | GRCh38 |
| NC_000007.13:g.42012048G>T , CM000669.1:g.42012048G>T | GRCh37 |
| NC_000007.12:g.41978573G>T | NCBI36 |
| NG_008434.1:g.269571C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.1991C>A MANE Select | ENSP00000379258.3:p.Ser664Ter | |
| ENST00000677288.1:c.1817C>A | ENSP00000503986.1:p.Ser606Ter | |
| ENST00000677605.1:c.1991C>A | ENSP00000503743.1:p.Ser664Ter | |
| ENST00000678429.1:c.1991C>A | ENSP00000502957.1:p.Ser664Ter | |
| ENST00000395925.7:c.1991C>A | ENSP00000379258.3:p.Ser664Ter | |
| ENST00000464291.1:n.544C>A | ||
| ENST00000479210.1:n.1968C>A | ||
| NM_000168.5:c.1991C>A | NP_000159.3:p.Ser664Ter | |
| XM_005249703.1:c.1991C>A | XP_005249760.1:p.Ser664Ter | |
| XM_005249704.2:c.1991C>A | XP_005249761.1:p.Ser664Ter | |
| XM_011515272.1:c.1991C>A | XP_011513574.1:p.Ser664Ter | |
| XM_011515273.1:c.1991C>A | XP_011513575.1:p.Ser664Ter | |
| XM_011515274.1:c.1814C>A | XP_011513576.1:p.Ser605Ter | |
| XM_011515274.2:c.1814C>A | XP_011513576.1:p.Ser605Ter | |
| XM_017011997.1:c.1988C>A | XP_016867486.1:p.Ser663Ter | |
| NM_000168.6:c.1991C>A MANE Select | NP_000159.3:p.Ser664Ter |