Linked Data
ClinVar Variation Id:
359097
dbSNP Id:
rs745674068
ExAC:
7:143017824 T / C
gnomAD v2:
7-143017824-T-C
gnomAD v3:
7-143320731-T-C
gnomAD v4:
7-143320731-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143320731T>C , CM000669.2:g.143320731T>C | GRCh38 |
| NC_000007.13:g.143017824T>C , CM000669.1:g.143017824T>C | GRCh37 |
| NC_000007.12:g.142727946T>C | NCBI36 |
| NG_009815.1:g.9606T>C | |
| NG_009815.2:g.9606T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.369T>C | ENSP00000498052.2:p.Leu123= | |
| ENST00000343257.7:c.369T>C MANE Select | ENSP00000339867.2:p.Leu123= | |
| ENST00000432192.6:c.137T>C | ||
| ENST00000650516.1:c.369T>C | ENSP00000498052.1:p.Leu123= | |
| ENST00000343257.6:c.369T>C | ENSP00000339867.2:p.Leu123= | |
| NM_000083.2:c.369T>C | NP_000074.2:p.Leu123= | |
| NR_046453.1:n.456T>C | ||
| XM_011515781.1:c.369T>C | XP_011514083.1:p.Leu123= | |
| XM_017011739.1:c.76T>C | XP_016867228.1:p.Ser26Pro | |
| XM_017011740.1:c.76T>C | XP_016867229.1:p.Ser26Pro | |
| NM_000083.3:c.369T>C MANE Select | NP_000074.3:p.Leu123= | |
| NR_046453.2:n.471T>C |