Linked Data
ClinVar Variation Id:
2439424
ClinVar RCV Id:
RCV003143693
dbSNP Id:
rs1805486954
gnomAD v4:
7-70118212-C-T
MyVariant Identifiers:
chr7:g.69583198C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70118212C>T , CM000669.2:g.70118212C>T | GRCh38 |
| NC_000007.13:g.69583198C>T , CM000669.1:g.69583198C>T | GRCh37 |
| NC_000007.12:g.69221134C>T | NCBI36 |
| NG_034133.1:g.524294C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342771.10:c.603C>T MANE Select | ENSP00000344087.4:p.Ser201= | |
| ENST00000403018.3:c.603C>T | ENSP00000385572.2:p.Ser201= | |
| ENST00000476695.2:n.458C>T | ||
| ENST00000643587.1:c.102C>T | ENSP00000494680.1:p.Ser34= | |
| ENST00000643936.1:c.382C>T | ||
| ENST00000644939.1:c.603C>T | ENSP00000496726.1:p.Ser201= | |
| ENST00000656998.1:c.366C>T | ENSP00000499769.1:n.366C>T | |
| ENST00000664521.1:c.129C>T | ENSP00000499733.1:p.Ser43= | |
| ENST00000342771.8:c.603C>T | ENSP00000344087.4:p.Ser201= | |
| ENST00000403018.2:c.603C>T | ENSP00000385572.2:p.Ser201= | |
| ENST00000406775.6:c.603C>T | ENSP00000385263.2:p.Ser201= | |
| ENST00000476695.1:n.452C>T | ||
| NM_001127231.2:c.603C>T | NP_001120703.1:p.Ser201= | |
| NM_001127232.2:c.603C>T | NP_001120704.1:p.Ser201= | |
| NM_015570.3:c.603C>T | NP_056385.1:p.Ser201= | |
| XM_011516010.1:c.603C>T | XP_011514312.1:p.Ser201= | |
| XM_011516011.1:c.603C>T | XP_011514313.1:p.Ser201= | |
| XM_011516012.1:c.603C>T | XP_011514314.1:p.Ser201= | |
| XM_011516013.1:c.603C>T | XP_011514315.1:p.Ser201= | |
| XM_011516014.1:c.603C>T | XP_011514316.1:p.Ser201= | |
| XM_011516015.1:c.603C>T | XP_011514317.1:p.Ser201= | |
| XM_011516016.1:c.312C>T | XP_011514318.1:p.Ser104= | |
| XM_011516017.1:c.129C>T | XP_011514319.1:p.Ser43= | |
| XM_011516018.1:c.102C>T | XP_011514320.1:p.Ser34= | |
| XM_011516010.2:c.603C>T | XP_011514312.1:p.Ser201= | |
| XM_011516011.2:c.603C>T | XP_011514313.1:p.Ser201= | |
| XM_011516012.2:c.603C>T | XP_011514314.1:p.Ser201= | |
| XM_011516013.2:c.603C>T | XP_011514315.1:p.Ser201= | |
| XM_011516014.2:c.603C>T | XP_011514316.1:p.Ser201= | |
| XM_011516017.2:c.129C>T | XP_011514319.1:p.Ser43= | |
| XM_011516018.2:c.102C>T | XP_011514320.1:p.Ser34= | |
| XM_017011951.2:c.603C>T | XP_016867440.1:p.Ser201= | |
| NM_001127231.3:c.603C>T | NP_001120703.1:p.Ser201= | |
| NM_001127232.3:c.603C>T | NP_001120704.1:p.Ser201= | |
| NM_015570.4:c.603C>T MANE Select | NP_056385.1:p.Ser201= |