Linked Data
dbSNP Id:
rs773561043
ExAC:
7:143049000 T / G
gnomAD v2:
7-143049000-T-G
gnomAD v4:
7-143351907-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351907T>G , CM000669.2:g.143351907T>G | GRCh38 |
| NC_000007.13:g.143049000T>G , CM000669.1:g.143049000T>G | GRCh37 |
| NC_000007.12:g.142759122T>G | NCBI36 |
| NG_009815.1:g.40782T>G | |
| NG_009815.2:g.40782T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2909T>G | ENSP00000498052.2:p.Leu970Trp | |
| ENST00000343257.7:c.2909T>G MANE Select | ENSP00000339867.2:p.Leu970Trp | |
| ENST00000343257.6:c.2909T>G | ENSP00000339867.2:p.Leu970Trp | |
| NM_000083.2:c.2909T>G | NP_000074.2:p.Leu970Trp | |
| NR_046453.1:n.2849T>G | ||
| XM_011515781.1:c.2933T>G | XP_011514083.1:p.Leu978Trp | |
| XM_011515782.1:c.1655T>G | XP_011514084.1:p.Leu552Trp | |
| XM_011515782.2:c.1655T>G | XP_011514084.1:p.Leu552Trp | |
| XM_017011739.1:c.2483T>G | XP_016867228.1:p.Leu828Trp | |
| XM_017011740.1:c.2459T>G | XP_016867229.1:p.Leu820Trp | |
| NM_000083.3:c.2909T>G MANE Select | NP_000074.3:p.Leu970Trp | |
| NR_046453.2:n.2864T>G |