Linked Data
dbSNP Id:
rs1293388165
gnomAD v4:
14-105529803-G-A
MyVariant Identifiers:
chr14:g.105529803G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105529803G>A , CM000676.2:g.105529803G>A | GRCh38 |
| NC_000014.8:g.105996140G>A , CM000676.1:g.105996140G>A | GRCh37 |
| NC_000014.7:g.105067185G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392519.7:c.*9G>A MANE Select | ENSP00000376304.2:n.*9G>A | |
| ENST00000392519.6:c.*9G>A | ENSP00000376304.2:n.*9G>A | |
| ENST00000431372.1:c.*9G>A | ENSP00000407456.1:n.*9G>A | |
| NM_025268.2:c.*9G>A | NP_079544.1:n.*9G>A | |
| XM_005268101.2:c.*9G>A | XP_005268158.1:n.*9G>A | |
| XM_006720261.2:c.*9G>A | XP_006720324.1:n.*9G>A | |
| XM_011537185.1:c.*9G>A | XP_011535487.1:n.*9G>A | |
| XM_011537186.1:c.*9G>A | XP_011535488.1:n.*9G>A | |
| NM_001331238.1:c.*9G>A | NP_001318167.1:n.*9G>A | |
| NM_025268.3:c.*9G>A | NP_079544.1:n.*9G>A | |
| XM_006720261.3:c.*9G>A | XP_006720324.1:n.*9G>A | |
| NM_025268.4:c.*9G>A MANE Select | NP_079544.1:n.*9G>A | |
| NM_001331238.2:c.*9G>A | NP_001318167.1:n.*9G>A |