Linked Data
ClinVar Variation Id:
3145393
ClinVar RCV Id:
RCV004444234
dbSNP Id:
rs370887921
ExAC:
7:143048904 C / T
gnomAD v2:
7-143048904-C-T
gnomAD v3:
7-143351811-C-T
gnomAD v4:
7-143351811-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351811C>T , CM000669.2:g.143351811C>T | GRCh38 |
| NC_000007.13:g.143048904C>T , CM000669.1:g.143048904C>T | GRCh37 |
| NC_000007.12:g.142759026C>T | NCBI36 |
| NG_009815.1:g.40686C>T | |
| NG_009815.2:g.40686C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2813C>T | ENSP00000498052.2:p.Pro938Leu | |
| ENST00000343257.7:c.2813C>T MANE Select | ENSP00000339867.2:p.Pro938Leu | |
| ENST00000343257.6:c.2813C>T | ENSP00000339867.2:p.Pro938Leu | |
| NM_000083.2:c.2813C>T | NP_000074.2:p.Pro938Leu | |
| NR_046453.1:n.2753C>T | ||
| XM_011515781.1:c.2837C>T | XP_011514083.1:p.Pro946Leu | |
| XM_011515782.1:c.1559C>T | XP_011514084.1:p.Pro520Leu | |
| XM_011515782.2:c.1559C>T | XP_011514084.1:p.Pro520Leu | |
| XM_017011739.1:c.2387C>T | XP_016867228.1:p.Pro796Leu | |
| XM_017011740.1:c.2363C>T | XP_016867229.1:p.Pro788Leu | |
| NM_000083.3:c.2813C>T MANE Select | NP_000074.3:p.Pro938Leu | |
| NR_046453.2:n.2768C>T |