Linked Data
dbSNP Id:
rs777639555
ExAC:
3:58416558 G / A
gnomAD v2:
3-58416558-G-A
gnomAD v3:
3-58430831-G-A
gnomAD v4:
3-58430831-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58430831G>A , CM000665.2:g.58430831G>A | GRCh38 |
| NC_000003.11:g.58416558G>A , CM000665.1:g.58416558G>A | GRCh37 |
| NC_000003.10:g.58391598G>A | NCBI36 |
| NG_016860.1:g.8022C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302746.11:c.415C>T MANE Select | ENSP00000307241.6:p.Pro139Ser | |
| ENST00000302746.10:c.415C>T | ENSP00000307241.6:p.Pro139Ser | |
| ENST00000383714.8:c.361C>T | ENSP00000373220.4:p.Pro121Ser | |
| ENST00000461692.5:n.528C>T | ||
| ENST00000469364.5:c.415C>T | ENSP00000419580.1:p.Pro139Ser | |
| ENST00000474765.1:c.361C>T | ENSP00000418448.1:p.Pro121Ser | |
| ENST00000479945.1:n.2820C>T | ||
| ENST00000480626.5:n.507C>T | ||
| ENST00000485460.5:c.403+12C>T | ENSP00000417267.1:n.403+12C>T | |
| NM_000925.3:c.415C>T | NP_000916.2:p.Pro139Ser | |
| NM_001173468.1:c.403+12C>T | NP_001166939.1:n.403+12C>T | |
| NM_001315536.1:c.361C>T | NP_001302465.1:p.Pro121Ser | |
| NR_033384.1:n.528C>T | ||
| NM_000925.4:c.415C>T MANE Select | NP_000916.2:p.Pro139Ser | |
| NM_001173468.2:c.403+12C>T | NP_001166939.1:n.403+12C>T | |
| NM_001315536.2:c.361C>T | NP_001302465.1:p.Pro121Ser | |
| NR_033384.2:n.521C>T |