Linked Data
dbSNP Id:
rs1298511653
gnomAD v2:
7-143029585-A-G
gnomAD v3:
7-143332492-A-G
gnomAD v4:
7-143332492-A-G
COSMIC:
COSM231140
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143332492A>G , CM000669.2:g.143332492A>G | GRCh38 |
| NC_000007.13:g.143029585A>G , CM000669.1:g.143029585A>G | GRCh37 |
| NC_000007.12:g.142739707A>G | NCBI36 |
| NG_009815.1:g.21367A>G | |
| NG_009815.2:g.21367A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1240A>G | ENSP00000498052.2:p.Met414Val | |
| ENST00000343257.7:c.1240A>G MANE Select | ENSP00000339867.2:p.Met414Val | |
| ENST00000432192.6:c.1064A>G | ||
| ENST00000343257.6:c.1240A>G | ENSP00000339867.2:p.Met414Val | |
| NM_000083.2:c.1240A>G | NP_000074.2:p.Met414Val | |
| NR_046453.1:n.1330A>G | ||
| XM_011515781.1:c.1240A>G | XP_011514083.1:p.Met414Val | |
| XM_011515782.1:c.-3-232A>G | XP_011514084.1:n.-3-232A>G | |
| XM_011515782.2:c.-3-232A>G | XP_011514084.1:n.-3-232A>G | |
| XM_017011739.1:c.790A>G | XP_016867228.1:p.Met264Val | |
| XM_017011740.1:c.790A>G | XP_016867229.1:p.Met264Val | |
| NM_000083.3:c.1240A>G MANE Select | NP_000074.3:p.Met414Val | |
| NR_046453.2:n.1345A>G |