Linked Data
dbSNP Id:
rs777870079
ExAC:
7:44185201 G / T
gnomAD v2:
7-44185201-G-T
gnomAD v4:
7-44145602-G-T
ERepo:
CA4239423/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145602G>T , CM000669.2:g.44145602G>T | GRCh38 |
| NC_000007.13:g.44185201G>T , CM000669.1:g.44185201G>T | GRCh37 |
| NC_000007.12:g.44151726G>T | NCBI36 |
| NG_008847.1:g.48822C>A | |
| NG_008847.2:g.57569C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1146C>A | ENSP00000379142.4:n.*1146C>A | |
| ENST00000616242.5:c.*268C>A | ENSP00000482149.2:n.*268C>A | |
| ENST00000683378.1:n.374C>A | ||
| ENST00000336642.9:c.182C>A | ENSP00000338009.5:p.Ser61Ter | |
| ENST00000345378.7:c.1151C>A | ENSP00000223366.2:p.Ser384Ter | |
| ENST00000403799.8:c.1148C>A MANE Select | ENSP00000384247.3:p.Ser383Ter | |
| ENST00000671824.1:c.1211C>A | ENSP00000500264.1:p.Ser404Ter | |
| ENST00000672743.1:n.160C>A | ||
| ENST00000673284.1:c.1148C>A | ENSP00000499852.1:p.Ser383Ter | |
| ENST00000336642.8:c.200C>A | ENSP00000338009.4:p.Ser67Ter | |
| ENST00000345378.6:c.1151C>A | ENSP00000223366.2:p.Ser384Ter | |
| ENST00000395796.7:c.1145C>A | ENSP00000379142.3:p.Ser382Ter | |
| ENST00000403799.7:c.1148C>A | ENSP00000384247.3:p.Ser383Ter | |
| ENST00000437084.1:c.1097C>A | ENSP00000402840.1:p.Ser366Ter | |
| ENST00000459642.1:n.528C>A | ||
| ENST00000616242.4:c.1145C>A | ENSP00000482149.1:p.Ser382Ter | |
| NM_000162.3:c.1148C>A | NP_000153.1:p.Ser383Ter | |
| NM_033507.1:c.1151C>A | NP_277042.1:p.Ser384Ter | |
| NM_033508.1:c.1145C>A | NP_277043.1:p.Ser382Ter | |
| NM_000162.4:c.1148C>A | NP_000153.1:p.Ser383Ter | |
| NM_001354800.1:c.1148C>A | NP_001341729.1:p.Ser383Ter | |
| NM_001354801.1:c.137C>A | NP_001341730.1:p.Ser46Ter | |
| NM_001354802.1:c.8C>A | NP_001341731.1:p.Ser3Ter | |
| NM_001354803.1:c.182C>A | NP_001341732.1:p.Ser61Ter | |
| NM_033507.2:c.1151C>A | NP_277042.1:p.Ser384Ter | |
| NM_033508.2:c.1145C>A | NP_277043.1:p.Ser382Ter | |
| XM_024446707.1:c.8C>A | XP_024302475.1:p.Ser3Ter | |
| NM_000162.5:c.1148C>A MANE Select | NP_000153.1:p.Ser383Ter | |
| NM_033507.3:c.1151C>A | NP_277042.1:p.Ser384Ter | |
| NM_033508.3:c.1145C>A | NP_277043.1:p.Ser382Ter | |
| NM_001354803.2:c.182C>A | NP_001341732.1:p.Ser61Ter |