Linked Data
dbSNP Id:
rs200314440
ExAC:
9:130575615 C / T
gnomAD v2:
9-130575615-C-T
gnomAD v3:
9-127813336-C-T
gnomAD v4:
9-127813336-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127813336C>T , CM000671.2:g.127813336C>T | GRCh38 |
| NC_000009.11:g.130575615C>T , CM000671.1:g.130575615C>T | GRCh37 |
| NC_000009.10:g.129615436C>T | NCBI36 |
| NG_009551.1:g.46433G>A , LRG_589:g.46433G>A | |
| NG_023245.1:g.15462C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373247.7:c.1496C>T MANE Select | ENSP00000362344.2:p.Ser499Phe | |
| ENST00000373225.7:c.1346C>T | ENSP00000362322.3:p.Ser449Phe | |
| ENST00000373228.5:c.*153C>T | ENSP00000362325.1:n.*153C>T | |
| ENST00000373247.6:c.1496C>T | ENSP00000362344.2:p.Ser499Phe | |
| ENST00000393706.6:c.1418C>T | ENSP00000377309.2:p.Ser473Phe | |
| ENST00000460181.5:n.1484C>T | ||
| ENST00000467826.5:n.709+13C>T | ||
| ENST00000475270.1:n.322C>T | ||
| ENST00000630236.2:c.*220C>T | ENSP00000486766.1:n.*220C>T | |
| NM_001018078.2:c.1346C>T | NP_001018088.1:p.Ser449Phe | |
| NM_001288803.1:c.1418C>T | NP_001275732.1:p.Ser473Phe | |
| NM_004957.5:c.1496C>T | NP_004948.4:p.Ser499Phe | |
| NR_110170.1:n.1544C>T | ||
| XM_005251864.2:c.1483+13C>T | XP_005251921.1:n.1483+13C>T | |
| XM_011518437.1:c.1346C>T | XP_011516739.1:p.Ser449Phe | |
| XM_011518438.1:c.1346C>T | XP_011516740.1:p.Ser449Phe | |
| XM_011518439.1:c.653C>T | XP_011516741.1:p.Ser218Phe | |
| XR_242581.2:n.1393C>T | ||
| XR_242582.2:n.1380+13C>T | ||
| XM_005251864.4:c.1483+13C>T | XP_005251921.1:n.1483+13C>T | |
| XM_011518439.2:c.653C>T | XP_011516741.1:p.Ser218Phe | |
| XM_017014565.2:c.1333+13C>T | XP_016870054.1:n.1333+13C>T | |
| XM_017014566.1:c.653C>T | XP_016870055.1:p.Ser218Phe | |
| XR_242581.4:n.1391C>T | ||
| XR_242582.4:n.1378+13C>T | ||
| NM_004957.6:c.1496C>T MANE Select | NP_004948.4:p.Ser499Phe |