Linked Data
ClinVar Variation Id:
1017678
ClinVar RCV Id:
RCV001316867
dbSNP Id:
rs1790754677
COSMIC:
COSM5619833
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70777121G>A , CM000669.2:g.70777121G>A | GRCh38 |
| NC_000007.13:g.70242107G>A , CM000669.1:g.70242107G>A | GRCh37 |
| NC_000007.12:g.69880043G>A | NCBI36 |
| NG_034133.1:g.1183203G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700075.1:c.19G>A | ENSP00000514784.1:p.Ala7Thr | |
| ENST00000342771.10:c.1951G>A MANE Select | ENSP00000344087.4:p.Ala651Thr | |
| ENST00000439256.2:c.49G>A | ENSP00000407058.2:p.Ala17Thr | |
| ENST00000443672.2:c.286G>A | ENSP00000393548.2:p.Ala96Thr | |
| ENST00000449547.6:c.44G>A | ||
| ENST00000464768.2:n.619G>A | ||
| ENST00000644359.1:c.532G>A | ENSP00000494561.1:p.Ala178Thr | |
| ENST00000644506.1:c.577G>A | ENSP00000496672.1:p.Ala193Thr | |
| ENST00000644939.1:c.1948G>A | ENSP00000496726.1:p.Ala650Thr | |
| ENST00000644949.1:c.282G>A | ||
| ENST00000646136.1:n.262G>A | ||
| ENST00000647140.1:c.816G>A | ||
| ENST00000342771.8:c.1951G>A | ENSP00000344087.4:p.Ala651Thr | |
| ENST00000406775.6:c.1879G>A | ENSP00000385263.2:p.Ala627Thr | |
| ENST00000439256.1:c.49G>A | ||
| ENST00000443672.1:c.531G>A | ||
| ENST00000464768.1:n.617G>A | ||
| ENST00000465899.1:n.448G>A | ||
| ENST00000498384.5:n.319G>A | ||
| ENST00000611706.4:c.1207G>A | ENSP00000478134.1:p.Ala403Thr | |
| ENST00000615871.4:c.1135G>A | ENSP00000479325.1:p.Ala379Thr | |
| NM_001127231.2:c.1879G>A | NP_001120703.1:p.Ala627Thr | |
| NM_015570.3:c.1951G>A | NP_056385.1:p.Ala651Thr | |
| XM_005250257.1:c.598G>A | XP_005250314.1:p.Ala200Thr | |
| XM_011516010.1:c.1972G>A | XP_011514312.1:p.Ala658Thr | |
| XM_011516011.1:c.1969G>A | XP_011514313.1:p.Ala657Thr | |
| XM_011516012.1:c.1906G>A | XP_011514314.1:p.Ala636Thr | |
| XM_011516013.1:c.1900G>A | XP_011514315.1:p.Ala634Thr | |
| XM_011516014.1:c.1870G>A | XP_011514316.1:p.Ala624Thr | |
| XM_011516015.1:c.1708G>A | XP_011514317.1:p.Ala570Thr | |
| XM_011516016.1:c.1681G>A | XP_011514318.1:p.Ala561Thr | |
| XM_011516017.1:c.1498G>A | XP_011514319.1:p.Ala500Thr | |
| XM_011516018.1:c.1471G>A | XP_011514320.1:p.Ala491Thr | |
| XM_005250257.2:c.598G>A | XP_005250314.1:p.Ala200Thr | |
| XM_011516010.2:c.1972G>A | XP_011514312.1:p.Ala658Thr | |
| XM_011516011.2:c.1969G>A | XP_011514313.1:p.Ala657Thr | |
| XM_011516012.2:c.1906G>A | XP_011514314.1:p.Ala636Thr | |
| XM_011516013.2:c.1900G>A | XP_011514315.1:p.Ala634Thr | |
| XM_011516014.2:c.1870G>A | XP_011514316.1:p.Ala624Thr | |
| XM_011516017.2:c.1498G>A | XP_011514319.1:p.Ala500Thr | |
| XM_011516018.2:c.1471G>A | XP_011514320.1:p.Ala491Thr | |
| XM_017011951.2:c.1972G>A | XP_016867440.1:p.Ala658Thr | |
| NM_001127231.3:c.1879G>A | NP_001120703.1:p.Ala627Thr | |
| NM_015570.4:c.1951G>A MANE Select | NP_056385.1:p.Ala651Thr |