Linked Data
ClinVar Variation Id:
360217
dbSNP Id:
rs886062333
gnomAD v3:
7-41964165-T-C
gnomAD v4:
7-41964165-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41964165T>C , CM000669.2:g.41964165T>C | GRCh38 |
| NC_000007.13:g.42003763T>C , CM000669.1:g.42003763T>C | GRCh37 |
| NC_000007.12:g.41970288T>C | NCBI36 |
| NG_008434.1:g.277856A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395925.8:c.*165A>G MANE Select | ENSP00000379258.3:n.*165A>G | |
| ENST00000677288.1:c.*165A>G | ENSP00000503986.1:n.*165A>G | |
| ENST00000677605.1:c.*165A>G | ENSP00000503743.1:n.*165A>G | |
| ENST00000678429.1:c.*165A>G | ENSP00000502957.1:n.*165A>G | |
| ENST00000395925.7:c.*165A>G | ENSP00000379258.3:n.*165A>G | |
| ENST00000479210.1:n.4885A>G | ||
| NM_000168.5:c.*165A>G | NP_000159.3:n.*165A>G | |
| XM_005249703.1:c.*165A>G | XP_005249760.1:n.*165A>G | |
| XM_005249704.2:c.*165A>G | XP_005249761.1:n.*165A>G | |
| XM_011515272.1:c.*165A>G | XP_011513574.1:n.*165A>G | |
| XM_011515273.1:c.*165A>G | XP_011513575.1:n.*165A>G | |
| XM_011515274.1:c.*165A>G | XP_011513576.1:n.*165A>G | |
| NM_000168.6:c.*165A>G MANE Select | NP_000159.3:n.*165A>G |