Linked Data
ClinVar Variation Id:
2151091
ClinVar RCV Id:
RCV003067896
dbSNP Id:
rs1021952035
ExAC:
7:143047669 C / G
gnomAD v2:
7-143047669-C-G
gnomAD v4:
7-143350576-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143350576C>G , CM000669.2:g.143350576C>G | GRCh38 |
| NC_000007.13:g.143047669C>G , CM000669.1:g.143047669C>G | GRCh37 |
| NC_000007.12:g.142757791C>G | NCBI36 |
| NG_009815.1:g.39451C>G | |
| NG_009815.2:g.39451C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650516.2:c.2517C>G | ENSP00000498052.2:p.Thr839= | |
| ENST00000343257.7:c.2517C>G MANE Select | ENSP00000339867.2:p.Thr839= | |
| ENST00000432192.6:c.2341C>G | ||
| ENST00000343257.6:c.2517C>G | ENSP00000339867.2:p.Thr839= | |
| NM_000083.2:c.2517C>G | NP_000074.2:p.Thr839= | |
| NR_046453.1:n.2457C>G | ||
| XM_011515781.1:c.2541C>G | XP_011514083.1:p.Thr847= | |
| XM_011515782.1:c.1263C>G | XP_011514084.1:p.Thr421= | |
| XM_011515782.2:c.1263C>G | XP_011514084.1:p.Thr421= | |
| XM_017011739.1:c.2091C>G | XP_016867228.1:p.Thr697= | |
| XM_017011740.1:c.2067C>G | XP_016867229.1:p.Thr689= | |
| NM_000083.3:c.2517C>G MANE Select | NP_000074.3:p.Thr839= | |
| NR_046453.2:n.2472C>G |