Linked Data
dbSNP Id:
rs1410771969
gnomAD v2:
7-100244193-A-G
gnomAD v3:
7-100646570-A-G
gnomAD v4:
7-100646570-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100646570A>G , CM000669.2:g.100646570A>G | GRCh38 |
| NC_000007.13:g.100244193A>G , CM000669.1:g.100244193A>G | GRCh37 |
| NC_000007.12:g.100082129A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.1094T>C MANE Select | ENSP00000160382.5:p.Leu365Pro | |
| ENST00000160382.9:c.1094T>C | ENSP00000160382.5:p.Leu365Pro | |
| ENST00000487125.1:n.656T>C | ||
| NM_016188.4:c.1094T>C | NP_057272.1:p.Leu365Pro | |
| XR_927476.1:n.1201T>C | ||
| NR_134539.1:n.1201T>C | ||
| NM_016188.5:c.1094T>C MANE Select | NP_057272.1:p.Leu365Pro | |
| NR_134539.2:n.1188T>C |