Linked Data
dbSNP Id:
rs1417532624
gnomAD v2:
7-143021584-A-C
gnomAD v3:
7-143324491-A-C
gnomAD v4:
7-143324491-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143324491A>C , CM000669.2:g.143324491A>C | GRCh38 |
| NC_000007.13:g.143021584A>C , CM000669.1:g.143021584A>C | GRCh37 |
| NC_000007.12:g.142731706A>C | NCBI36 |
| NG_009815.1:g.13366A>C | |
| NG_009815.2:g.13366A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.853+594A>C | ENSP00000498052.2:n.853+594A>C | |
| ENST00000343257.7:c.852A>C MANE Select | ENSP00000339867.2:p.Gly284= | |
| ENST00000432192.6:c.676A>C | ||
| ENST00000455478.6:c.440A>C | ENSP00000400027.2:n.440A>C | |
| ENST00000650516.1:c.853+594A>C | ENSP00000498052.1:n.853+594A>C | |
| ENST00000343257.6:c.852A>C | ENSP00000339867.2:p.Gly284= | |
| ENST00000432192.5:c.366A>C | ||
| ENST00000455478.5:c.444A>C | ||
| ENST00000495612.1:n.154+2643A>C | ||
| NM_000083.2:c.852A>C | NP_000074.2:p.Gly284= | |
| NR_046453.1:n.942A>C | ||
| XM_011515781.1:c.853+594A>C | XP_011514083.1:n.853+594A>C | |
| XM_017011739.1:c.403+2643A>C | XP_016867228.1:n.403+2643A>C | |
| XM_017011740.1:c.403+2643A>C | XP_016867229.1:n.403+2643A>C | |
| NM_000083.3:c.852A>C MANE Select | NP_000074.3:p.Gly284= | |
| NR_046453.2:n.957A>C |