Linked Data
ClinVar Variation Id:
531746
ClinVar RCV Id:
RCV000638240
dbSNP Id:
rs1330549395
gnomAD v2:
7-143027933-G-C
gnomAD v4:
7-143330840-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143330840G>C , CM000669.2:g.143330840G>C | GRCh38 |
| NC_000007.13:g.143027933G>C , CM000669.1:g.143027933G>C | GRCh37 |
| NC_000007.12:g.142738055G>C | NCBI36 |
| NG_009815.1:g.19715G>C | |
| NG_009815.2:g.19715G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.922G>C | ENSP00000498052.2:p.Ala308Pro | |
| ENST00000343257.7:c.922G>C MANE Select | ENSP00000339867.2:p.Ala308Pro | |
| ENST00000432192.6:c.746G>C | ||
| ENST00000455478.6:c.510G>C | ENSP00000400027.2:n.510G>C | |
| ENST00000650516.1:c.922G>C | ENSP00000498052.1:p.Ala308Pro | |
| ENST00000343257.6:c.922G>C | ENSP00000339867.2:p.Ala308Pro | |
| ENST00000432192.5:c.436G>C | ||
| ENST00000455478.5:c.514G>C | ||
| ENST00000495612.1:n.223G>C | ||
| NM_000083.2:c.922G>C | NP_000074.2:p.Ala308Pro | |
| NR_046453.1:n.1012G>C | ||
| XM_011515781.1:c.922G>C | XP_011514083.1:p.Ala308Pro | |
| XM_017011739.1:c.472G>C | XP_016867228.1:p.Ala158Pro | |
| XM_017011740.1:c.472G>C | XP_016867229.1:p.Ala158Pro | |
| NM_000083.3:c.922G>C MANE Select | NP_000074.3:p.Ala308Pro | |
| NR_046453.2:n.1027G>C |