Linked Data
ClinVar Variation Id:
163761
ClinVar RCV Id:
RCV000150887
dbSNP Id:
rs727503106
gnomAD v4:
12-25227234-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25227234C>T , CM000674.2:g.25227234C>T | GRCh38 |
| NC_000012.11:g.25380168C>T , CM000674.1:g.25380168C>T | GRCh37 |
| NC_000012.10:g.25271435C>T | NCBI36 |
| NG_007524.1:g.28687G>A | |
| NG_007524.2:g.28770G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.112-17323G>A | ENSP00000452512.1:n.112-17323G>A | |
| ENST00000685328.1:c.290G>A | ENSP00000508921.1:p.Arg97Lys | |
| ENST00000686877.1:c.*261G>A | ENSP00000510431.1:n.*261G>A | |
| ENST00000687356.1:c.112-1461G>A | ENSP00000510511.1:n.112-1461G>A | |
| ENST00000688228.1:n.764G>A | ||
| ENST00000688940.1:c.290G>A | ENSP00000509238.1:p.Arg97Lys | |
| ENST00000690804.1:c.*251G>A | ENSP00000508568.1:n.*251G>A | |
| ENST00000692768.1:c.92G>A | ENSP00000510254.1:p.Arg31Lys | |
| ENST00000693229.1:c.215G>A | ENSP00000509223.1:p.Arg72Lys | |
| ENST00000256078.10:c.290G>A MANE Plus Clinical | ENSP00000256078.5:p.Arg97Lys | |
| ENST00000311936.8:c.290G>A MANE Select | ENSP00000308495.3:p.Arg97Lys | |
| ENST00000256078.8:c.290G>A | ENSP00000256078.4:p.Arg97Lys | |
| ENST00000311936.7:c.290G>A | ENSP00000308495.3:p.Arg97Lys | |
| ENST00000557334.5:c.112-17323G>A | ENSP00000452512.1:n.112-17323G>A | |
| NM_004985.4:c.290G>A | NP_004976.2:p.Arg97Lys | |
| NM_033360.3:c.290G>A | NP_203524.1:p.Arg97Lys | |
| XM_006719069.2:c.290G>A | XP_006719132.1:p.Arg97Lys | |
| XM_011520653.1:c.290G>A | XP_011518955.1:p.Arg97Lys | |
| XM_006719069.4:c.290G>A | XP_006719132.1:p.Arg97Lys | |
| XM_011520653.3:c.290G>A | XP_011518955.1:p.Arg97Lys | |
| NM_001369786.1:c.290G>A | NP_001356715.1:p.Arg97Lys | |
| NM_001369787.1:c.290G>A | NP_001356716.1:p.Arg97Lys | |
| NM_004985.5:c.290G>A MANE Select | NP_004976.2:p.Arg97Lys | |
| NM_033360.4:c.290G>A MANE Plus Clinical | NP_203524.1:p.Arg97Lys |