Linked Data
ClinVar Variation Id:
533878
dbSNP Id:
rs150188173
ExAC:
7:151573666 C / G
gnomAD v2:
7-151573666-C-G
gnomAD v3:
7-151876581-C-G
gnomAD v4:
7-151876581-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151876581C>G , CM000669.2:g.151876581C>G | GRCh38 |
| NC_000007.13:g.151573666C>G , CM000669.1:g.151573666C>G | GRCh37 |
| NC_000007.12:g.151204599C>G | NCBI36 |
| NG_007486.1:g.5651G>C | |
| NG_007486.2:g.5651G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652321.2:c.40G>C | ENSP00000498886.2:p.Val14Leu | |
| ENST00000287878.9:c.40G>C MANE Select | ENSP00000287878.3:p.Val14Leu | |
| ENST00000652321.1:c.40G>C | ENSP00000498886.1:p.Val14Leu | |
| ENST00000287878.8:c.40G>C | ENSP00000287878.3:p.Val14Leu | |
| ENST00000474383.1:n.208G>C | ||
| ENST00000481434.5:n.545G>C | ||
| ENST00000488258.5:c.40G>C | ENSP00000420783.1:p.Val14Leu | |
| NM_016203.3:c.40G>C | NP_057287.2:p.Val14Leu | |
| XM_005250002.2:c.40G>C | XP_005250059.1:p.Val14Leu | |
| XM_011516287.1:c.-674G>C | XP_011514589.1:n.-674G>C | |
| XM_005250002.4:c.40G>C | XP_005250059.1:p.Val14Leu | |
| XM_017012269.1:c.40G>C | XP_016867758.1:p.Val14Leu | |
| XM_017012278.1:c.-674G>C | XP_016867767.1:n.-674G>C | |
| NM_016203.4:c.40G>C MANE Select | NP_057287.2:p.Val14Leu |