Linked Data
ClinVar Variation Id:
350032
dbSNP Id:
rs138495345
ExAC:
4:88996768 C / T
gnomAD v2:
4-88996768-C-T
gnomAD v3:
4-88075616-C-T
gnomAD v4:
4-88075616-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88075616C>T , CM000666.2:g.88075616C>T | GRCh38 |
| NC_000004.11:g.88996768C>T , CM000666.1:g.88996768C>T | GRCh37 |
| NC_000004.10:g.89215792C>T | NCBI36 |
| NG_008604.1:g.72949C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.2829C>T MANE Select | ENSP00000237596.2:p.Ser943= | |
| ENST00000237596.6:c.2829C>T | ENSP00000237596.2:p.Ser943= | |
| ENST00000502363.1:c.1083C>T | ENSP00000425289.1:p.Ser361= | |
| ENST00000508588.5:c.1083C>T | ENSP00000427131.1:p.Ser361= | |
| ENST00000511337.5:n.1081C>T | ||
| ENST00000512858.1:n.1307C>T | ||
| NM_000297.3:c.2829C>T | NP_000288.1:p.Ser943= | |
| XM_011532028.1:c.2604C>T | XP_011530330.1:p.Ser868= | |
| XM_011532029.1:c.2109C>T | XP_011530331.1:p.Ser703= | |
| XM_011532030.1:c.1989C>T | XP_011530332.1:p.Ser663= | |
| NR_156488.1:n.2795C>T | ||
| XM_011532028.2:c.2604C>T | XP_011530330.1:p.Ser868= | |
| XM_011532030.2:c.1989C>T | XP_011530332.1:p.Ser663= | |
| NM_000297.4:c.2829C>T MANE Select | NP_000288.1:p.Ser943= | |
| NR_156488.2:n.2807C>T |