Linked Data
ClinVar Variation Id:
2404032
ClinVar RCV Id:
RCV002749933
dbSNP Id:
rs773766934
ExAC:
7:138447767 C / G
gnomAD v2:
7-138447767-C-G
gnomAD v3:
7-138763022-C-G
gnomAD v4:
7-138763022-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138763022C>G , CM000669.2:g.138763022C>G | GRCh38 |
| NC_000007.13:g.138447767C>G , CM000669.1:g.138447767C>G | GRCh37 |
| NC_000007.12:g.138098307C>G | NCBI36 |
| NG_008145.1:g.40175G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310018.7:c.295G>C MANE Select | ENSP00000308122.2:p.Val99Leu | |
| ENST00000645515.1:c.295G>C | ENSP00000496421.1:p.Val99Leu | |
| ENST00000310018.6:c.295G>C | ENSP00000308122.2:p.Val99Leu | |
| ENST00000353492.4:c.295G>C | ENSP00000253856.6:p.Val99Leu | |
| ENST00000393054.5:c.295G>C | ENSP00000376774.1:p.Val99Leu | |
| ENST00000483139.1:n.544G>C | ||
| NM_020632.2:c.295G>C | NP_065683.2:p.Val99Leu | |
| NM_130840.2:c.295G>C | NP_570855.2:p.Val99Leu | |
| NM_130841.2:c.295G>C | NP_570856.2:p.Val99Leu | |
| XM_005250393.1:c.295G>C | XP_005250450.1:p.Val99Leu | |
| XM_005250394.2:c.295G>C | XP_005250451.1:p.Val99Leu | |
| XM_005250394.3:c.295G>C | XP_005250451.1:p.Val99Leu | |
| NM_020632.3:c.295G>C MANE Select | NP_065683.2:p.Val99Leu | |
| NM_130840.3:c.295G>C | NP_570855.2:p.Val99Leu | |
| NM_130841.3:c.295G>C | NP_570856.2:p.Val99Leu |