Linked Data
dbSNP Id:
rs768247903
ExAC:
7:44187249 A / C
gnomAD v2:
7-44187249-A-C
gnomAD v4:
7-44147650-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44147650A>C , CM000669.2:g.44147650A>C | GRCh38 |
| NC_000007.13:g.44187249A>C , CM000669.1:g.44187249A>C | GRCh37 |
| NC_000007.12:g.44153774A>C | NCBI36 |
| NG_008847.1:g.46774T>G | |
| NG_008847.2:g.55521T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*861T>G | ENSP00000379142.4:n.*861T>G | |
| ENST00000616242.5:c.853+10T>G | ENSP00000482149.2:n.853+10T>G | |
| ENST00000345378.7:c.866T>G | ENSP00000223366.2:p.Leu289Arg | |
| ENST00000403799.8:c.863T>G MANE Select | ENSP00000384247.3:p.Leu288Arg | |
| ENST00000671824.1:c.853+10T>G | ENSP00000500264.1:n.853+10T>G | |
| ENST00000673284.1:c.863T>G | ENSP00000499852.1:p.Leu288Arg | |
| ENST00000345378.6:c.866T>G | ENSP00000223366.2:p.Leu289Arg | |
| ENST00000395796.7:c.860T>G | ENSP00000379142.3:p.Leu287Arg | |
| ENST00000403799.7:c.863T>G | ENSP00000384247.3:p.Leu288Arg | |
| ENST00000437084.1:c.812T>G | ENSP00000402840.1:p.Leu271Arg | |
| ENST00000616242.4:c.860T>G | ENSP00000482149.1:p.Leu287Arg | |
| NM_000162.3:c.863T>G | NP_000153.1:p.Leu288Arg | |
| NM_033507.1:c.866T>G | NP_277042.1:p.Leu289Arg | |
| NM_033508.1:c.860T>G | NP_277043.1:p.Leu287Arg | |
| NM_000162.4:c.863T>G | NP_000153.1:p.Leu288Arg | |
| NM_001354800.1:c.863T>G | NP_001341729.1:p.Leu288Arg | |
| NM_033507.2:c.866T>G | NP_277042.1:p.Leu289Arg | |
| NM_033508.2:c.860T>G | NP_277043.1:p.Leu287Arg | |
| NM_000162.5:c.863T>G MANE Select | NP_000153.1:p.Leu288Arg | |
| NM_033507.3:c.866T>G | NP_277042.1:p.Leu289Arg | |
| NM_033508.3:c.860T>G | NP_277043.1:p.Leu287Arg |