Linked Data
ClinVar Variation Id:
1978447
ClinVar RCV Id:
RCV002750992
dbSNP Id:
rs751179138
ExAC:
7:44185165 T / C
gnomAD v2:
7-44185165-T-C
gnomAD v4:
7-44145566-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145566T>C , CM000669.2:g.44145566T>C | GRCh38 |
| NC_000007.13:g.44185165T>C , CM000669.1:g.44185165T>C | GRCh37 |
| NC_000007.12:g.44151690T>C | NCBI36 |
| NG_008847.1:g.48858A>G | |
| NG_008847.2:g.57605A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1182A>G | ENSP00000379142.4:n.*1182A>G | |
| ENST00000616242.5:c.*304A>G | ENSP00000482149.2:n.*304A>G | |
| ENST00000683378.1:n.410A>G | ||
| ENST00000336642.9:c.218A>G | ENSP00000338009.5:p.Glu73Gly | |
| ENST00000345378.7:c.1187A>G | ENSP00000223366.2:p.Glu396Gly | |
| ENST00000403799.8:c.1184A>G MANE Select | ENSP00000384247.3:p.Glu395Gly | |
| ENST00000671824.1:c.1247A>G | ENSP00000500264.1:p.Glu416Gly | |
| ENST00000672743.1:n.196A>G | ||
| ENST00000673284.1:c.1184A>G | ENSP00000499852.1:p.Glu395Gly | |
| ENST00000336642.8:c.236A>G | ENSP00000338009.4:p.Glu79Gly | |
| ENST00000345378.6:c.1187A>G | ENSP00000223366.2:p.Glu396Gly | |
| ENST00000395796.7:c.1181A>G | ENSP00000379142.3:p.Glu394Gly | |
| ENST00000403799.7:c.1184A>G | ENSP00000384247.3:p.Glu395Gly | |
| ENST00000437084.1:c.1133A>G | ENSP00000402840.1:p.Glu378Gly | |
| ENST00000459642.1:n.564A>G | ||
| ENST00000616242.4:c.1181A>G | ENSP00000482149.1:p.Glu394Gly | |
| NM_000162.3:c.1184A>G | NP_000153.1:p.Glu395Gly | |
| NM_033507.1:c.1187A>G | NP_277042.1:p.Glu396Gly | |
| NM_033508.1:c.1181A>G | NP_277043.1:p.Glu394Gly | |
| NM_000162.4:c.1184A>G | NP_000153.1:p.Glu395Gly | |
| NM_001354800.1:c.1184A>G | NP_001341729.1:p.Glu395Gly | |
| NM_001354801.1:c.173A>G | NP_001341730.1:p.Glu58Gly | |
| NM_001354802.1:c.44A>G | NP_001341731.1:p.Glu15Gly | |
| NM_001354803.1:c.218A>G | NP_001341732.1:p.Glu73Gly | |
| NM_033507.2:c.1187A>G | NP_277042.1:p.Glu396Gly | |
| NM_033508.2:c.1181A>G | NP_277043.1:p.Glu394Gly | |
| XM_024446707.1:c.44A>G | XP_024302475.1:p.Glu15Gly | |
| NM_000162.5:c.1184A>G MANE Select | NP_000153.1:p.Glu395Gly | |
| NM_033507.3:c.1187A>G | NP_277042.1:p.Glu396Gly | |
| NM_033508.3:c.1181A>G | NP_277043.1:p.Glu394Gly | |
| NM_001354803.2:c.218A>G | NP_001341732.1:p.Glu73Gly |