Linked Data
ClinVar Variation Id:
1190716
dbSNP Id:
rs1023099235
gnomAD v2:
7-143029588-G-C
gnomAD v3:
7-143332495-G-C
gnomAD v4:
7-143332495-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143332495G>C , CM000669.2:g.143332495G>C | GRCh38 |
| NC_000007.13:g.143029588G>C , CM000669.1:g.143029588G>C | GRCh37 |
| NC_000007.12:g.142739710G>C | NCBI36 |
| NG_009815.1:g.21370G>C | |
| NG_009815.2:g.21370G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1243G>C | ENSP00000498052.2:p.Ala415Pro | |
| ENST00000343257.7:c.1243G>C MANE Select | ENSP00000339867.2:p.Ala415Pro | |
| ENST00000432192.6:c.1067G>C | ||
| ENST00000343257.6:c.1243G>C | ENSP00000339867.2:p.Ala415Pro | |
| NM_000083.2:c.1243G>C | NP_000074.2:p.Ala415Pro | |
| NR_046453.1:n.1333G>C | ||
| XM_011515781.1:c.1243G>C | XP_011514083.1:p.Ala415Pro | |
| XM_011515782.1:c.-3-229G>C | XP_011514084.1:n.-3-229G>C | |
| XM_011515782.2:c.-3-229G>C | XP_011514084.1:n.-3-229G>C | |
| XM_017011739.1:c.793G>C | XP_016867228.1:p.Ala265Pro | |
| XM_017011740.1:c.793G>C | XP_016867229.1:p.Ala265Pro | |
| NM_000083.3:c.1243G>C MANE Select | NP_000074.3:p.Ala415Pro | |
| NR_046453.2:n.1348G>C |