Linked Data
ClinVar Variation Id:
291030
dbSNP Id:
rs752075592
ExAC:
3:145809651 G / A
gnomAD v2:
3-145809651-G-A
gnomAD v3:
3-146091864-G-A
gnomAD v4:
3-146091864-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.146091864G>A , CM000665.2:g.146091864G>A | GRCh38 |
| NC_000003.11:g.145809651G>A , CM000665.1:g.145809651G>A | GRCh37 |
| NC_000003.10:g.147292341G>A | NCBI36 |
| NG_009251.1:g.74632C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000469350.6:c.731C>T | ENSP00000419963.2:p.Ser244Leu | |
| ENST00000480704.2:c.*579C>T | ENSP00000419880.1:n.*579C>T | |
| ENST00000703517.1:n.579+10891C>T | ||
| ENST00000703518.1:c.815C>T | ENSP00000515350.1:p.Ser272Leu | |
| ENST00000703519.1:n.832C>T | ||
| ENST00000703520.1:c.815C>T | ENSP00000515351.1:p.Ser272Leu | |
| ENST00000703521.1:c.*167C>T | ENSP00000515352.1:n.*167C>T | |
| ENST00000703522.1:c.815C>T | ENSP00000515353.1:p.Ser272Leu | |
| ENST00000703523.1:c.815C>T | ENSP00000515354.1:p.Ser272Leu | |
| ENST00000703524.1:n.338C>T | ||
| ENST00000703525.1:n.1010C>T | ||
| ENST00000703526.1:n.183C>T | ||
| ENST00000703527.1:c.815C>T | ENSP00000515355.1:p.Ser272Leu | |
| ENST00000703528.1:c.650C>T | ENSP00000515356.1:p.Ser217Leu | |
| ENST00000703529.1:n.1010C>T | ||
| ENST00000706626.1:c.815C>T | ENSP00000516472.1:p.Ser272Leu | |
| ENST00000706627.1:n.1010C>T | ||
| ENST00000706634.1:n.1010C>T | ||
| ENST00000706635.1:c.815C>T | ENSP00000516475.1:p.Ser272Leu | |
| ENST00000706636.1:c.*167C>T | ENSP00000516476.1:n.*167C>T | |
| ENST00000282903.10:c.815C>T MANE Select | ENSP00000282903.5:p.Ser272Leu | |
| ENST00000282903.9:c.815C>T | ENSP00000282903.5:p.Ser272Leu | |
| ENST00000360060.7:c.815C>T | ENSP00000353170.3:p.Ser272Leu | |
| ENST00000494950.5:c.650C>T | ENSP00000420094.1:p.Ser217Leu | |
| NM_000935.2:c.815C>T | NP_000926.2:p.Ser272Leu | |
| NM_182943.2:c.815C>T | NP_891988.1:p.Ser272Leu | |
| XM_005247535.3:c.539C>T | XP_005247592.1:p.Ser180Leu | |
| XM_005247536.3:c.815C>T | XP_005247593.1:p.Ser272Leu | |
| XM_005247535.4:c.539C>T | XP_005247592.1:p.Ser180Leu | |
| XM_017006625.2:c.539C>T | XP_016862114.1:p.Ser180Leu | |
| XM_024453599.1:c.539C>T | XP_024309367.1:p.Ser180Leu | |
| XR_001740176.2:n.1010C>T | ||
| NM_182943.3:c.815C>T MANE Select | NP_891988.1:p.Ser272Leu | |
| NM_000935.3:c.815C>T | NP_000926.2:p.Ser272Leu |