Linked Data
dbSNP Id:
rs778548210
ExAC:
7:143018483 G / A
gnomAD v2:
7-143018483-G-A
gnomAD v4:
7-143321390-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321390G>A , CM000669.2:g.143321390G>A | GRCh38 |
| NC_000007.13:g.143018483G>A , CM000669.1:g.143018483G>A | GRCh37 |
| NC_000007.12:g.142728605G>A | NCBI36 |
| NG_009815.1:g.10265G>A | |
| NG_009815.2:g.10265G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.459G>A | ENSP00000498052.2:p.Met153Ile | |
| ENST00000343257.7:c.459G>A MANE Select | ENSP00000339867.2:p.Met153Ile | |
| ENST00000432192.6:c.227G>A | ||
| ENST00000650516.1:c.459G>A | ENSP00000498052.1:p.Met153Ile | |
| ENST00000343257.6:c.459G>A | ENSP00000339867.2:p.Met153Ile | |
| NM_000083.2:c.459G>A | NP_000074.2:p.Met153Ile | |
| NR_046453.1:n.546G>A | ||
| XM_011515781.1:c.459G>A | XP_011514083.1:p.Met153Ile | |
| XM_017011739.1:c.166G>A | XP_016867228.1:p.Ala56Thr | |
| XM_017011740.1:c.166G>A | XP_016867229.1:p.Ala56Thr | |
| NM_000083.3:c.459G>A MANE Select | NP_000074.3:p.Met153Ile | |
| NR_046453.2:n.561G>A |