Linked Data
ClinVar Variation Id:
2935400
ClinVar RCV Id:
RCV003791054
gnomAD v4:
7-143341993-A-G
MyVariant Identifiers:
chr7:g.143039086A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143341993A>G , CM000669.2:g.143341993A>G | GRCh38 |
| NC_000007.13:g.143039086A>G , CM000669.1:g.143039086A>G | GRCh37 |
| NC_000007.12:g.142749208A>G | NCBI36 |
| NG_009815.1:g.30868A>G | |
| NG_009815.2:g.30868A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1647A>G | ENSP00000498052.2:p.Leu549= | |
| ENST00000343257.7:c.1647A>G MANE Select | ENSP00000339867.2:p.Leu549= | |
| ENST00000432192.6:c.1471A>G | ||
| ENST00000343257.6:c.1647A>G | ENSP00000339867.2:p.Leu549= | |
| NM_000083.2:c.1647A>G | NP_000074.2:p.Leu549= | |
| NR_046453.1:n.1587A>G | ||
| XM_011515781.1:c.1671A>G | XP_011514083.1:p.Leu557= | |
| XM_011515782.1:c.393A>G | XP_011514084.1:p.Leu131= | |
| XM_011515782.2:c.393A>G | XP_011514084.1:p.Leu131= | |
| XM_017011739.1:c.1221A>G | XP_016867228.1:p.Leu407= | |
| XM_017011740.1:c.1197A>G | XP_016867229.1:p.Leu399= | |
| NM_000083.3:c.1647A>G MANE Select | NP_000074.3:p.Leu549= | |
| NR_046453.2:n.1602A>G |