Linked Data
ClinVar Variation Id:
447060
dbSNP Id:
rs144612641
ExAC:
7:143043294 A / G
gnomAD v2:
7-143043294-A-G
gnomAD v3:
7-143346201-A-G
gnomAD v4:
7-143346201-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143346201A>G , CM000669.2:g.143346201A>G | GRCh38 |
| NC_000007.13:g.143043294A>G , CM000669.1:g.143043294A>G | GRCh37 |
| NC_000007.12:g.142753416A>G | NCBI36 |
| NG_009815.1:g.35076A>G | |
| NG_009815.2:g.35076A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2234A>G | ENSP00000498052.2:p.Asn745Ser | |
| ENST00000343257.7:c.2234A>G MANE Select | ENSP00000339867.2:p.Asn745Ser | |
| ENST00000432192.6:c.2058A>G | ||
| ENST00000343257.6:c.2234A>G | ENSP00000339867.2:p.Asn745Ser | |
| NM_000083.2:c.2234A>G | NP_000074.2:p.Asn745Ser | |
| NR_046453.1:n.2174A>G | ||
| XM_011515781.1:c.2258A>G | XP_011514083.1:p.Asn753Ser | |
| XM_011515782.1:c.980A>G | XP_011514084.1:p.Asn327Ser | |
| XM_011515782.2:c.980A>G | XP_011514084.1:p.Asn327Ser | |
| XM_017011739.1:c.1808A>G | XP_016867228.1:p.Asn603Ser | |
| XM_017011740.1:c.1784A>G | XP_016867229.1:p.Asn595Ser | |
| NM_000083.3:c.2234A>G MANE Select | NP_000074.3:p.Asn745Ser | |
| NR_046453.2:n.2189A>G |