Linked Data
dbSNP Id:
rs1355456957
gnomAD v2:
7-44187233-A-G
gnomAD v3:
7-44147634-A-G
gnomAD v4:
7-44147634-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44147634A>G , CM000669.2:g.44147634A>G | GRCh38 |
| NC_000007.13:g.44187233A>G , CM000669.1:g.44187233A>G | GRCh37 |
| NC_000007.12:g.44153758A>G | NCBI36 |
| NG_008847.1:g.46790T>C | |
| NG_008847.2:g.55537T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*861+16T>C | ENSP00000379142.4:n.*861+16T>C | |
| ENST00000616242.5:c.853+26T>C | ENSP00000482149.2:n.853+26T>C | |
| ENST00000345378.7:c.866+16T>C | ENSP00000223366.2:n.866+16T>C | |
| ENST00000403799.8:c.863+16T>C MANE Select | ENSP00000384247.3:n.863+16T>C | |
| ENST00000671824.1:c.853+26T>C | ENSP00000500264.1:n.853+26T>C | |
| ENST00000673284.1:c.863+16T>C | ENSP00000499852.1:n.863+16T>C | |
| ENST00000345378.6:c.866+16T>C | ENSP00000223366.2:n.866+16T>C | |
| ENST00000395796.7:c.860+16T>C | ENSP00000379142.3:n.860+16T>C | |
| ENST00000403799.7:c.863+16T>C | ENSP00000384247.3:n.863+16T>C | |
| ENST00000437084.1:c.812+16T>C | ENSP00000402840.1:n.812+16T>C | |
| ENST00000616242.4:c.860+16T>C | ENSP00000482149.1:n.860+16T>C | |
| NM_000162.3:c.863+16T>C | NP_000153.1:n.863+16T>C | |
| NM_033507.1:c.866+16T>C | NP_277042.1:n.866+16T>C | |
| NM_033508.1:c.860+16T>C | NP_277043.1:n.860+16T>C | |
| NM_000162.4:c.863+16T>C | NP_000153.1:n.863+16T>C | |
| NM_001354800.1:c.863+16T>C | NP_001341729.1:n.863+16T>C | |
| NM_033507.2:c.866+16T>C | NP_277042.1:n.866+16T>C | |
| NM_033508.2:c.860+16T>C | NP_277043.1:n.860+16T>C | |
| NM_000162.5:c.863+16T>C MANE Select | NP_000153.1:n.863+16T>C | |
| NM_033507.3:c.866+16T>C | NP_277042.1:n.866+16T>C | |
| NM_033508.3:c.860+16T>C | NP_277043.1:n.860+16T>C |