Linked Data
ClinVar Variation Id:
2939040
ClinVar RCV Id:
RCV003791766
dbSNP Id:
rs759845069
ExAC:
7:128489517 T / C
gnomAD v2:
7-128489517-T-C
gnomAD v4:
7-128849463-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128849463T>C , CM000669.2:g.128849463T>C | GRCh38 |
| NC_000007.13:g.128489517T>C , CM000669.1:g.128489517T>C | GRCh37 |
| NC_000007.12:g.128276753T>C | NCBI36 |
| NG_011807.1:g.24035T>C , LRG_870:g.24035T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325888.13:c.5084T>C MANE Select | ENSP00000327145.8:p.Val1695Ala | |
| ENST00000325888.12:c.5084T>C | ENSP00000327145.8:p.Val1695Ala | |
| ENST00000346177.6:c.5084T>C | ENSP00000344002.6:p.Val1695Ala | |
| NM_001127487.1:c.5084T>C | NP_001120959.1:p.Val1695Ala | |
| NM_001458.4:c.5084T>C , LRG_870t1:c.5084T>C | NP_001449.3:p.Val1695Ala | |
| NM_001127487.2:c.5084T>C | NP_001120959.1:p.Val1695Ala | |
| NM_001458.5:c.5084T>C MANE Select | NP_001449.3:p.Val1695Ala |