Linked Data
dbSNP Id:
rs771682806
ExAC:
16:3778088 C / A
gnomAD v2:
16-3778088-C-A
gnomAD v4:
16-3728087-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728087C>A , CM000678.2:g.3728087C>A | GRCh38 |
| NC_000016.9:g.3778088C>A , CM000678.1:g.3778088C>A | GRCh37 |
| NC_000016.8:g.3718089C>A | NCBI36 |
| NG_009873.1:g.157034G>T | |
| NG_009873.2:g.157627G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6960G>T MANE Select | ENSP00000262367.5:p.Met2320Ile | |
| ENST00000262367.9:c.6960G>T | ENSP00000262367.5:p.Met2320Ile | |
| ENST00000382070.7:c.6846G>T | ENSP00000371502.3:p.Met2282Ile | |
| NM_001079846.1:c.6846G>T | NP_001073315.1:p.Met2282Ile | |
| NM_004380.2:c.6960G>T | NP_004371.2:p.Met2320Ile | |
| XM_005255124.3:c.6915G>T | XP_005255181.1:p.Met2305Ile | |
| XM_005255125.3:c.6543G>T | XP_005255182.1:p.Met2181Ile | |
| XM_006720848.2:c.6699G>T | XP_006720911.1:p.Met2233Ile | |
| XM_011522380.1:c.6906G>T | XP_011520682.1:p.Met2302Ile | |
| XM_011522381.1:c.6207G>T | XP_011520683.1:p.Met2069Ile | |
| XM_005255124.4:c.6915G>T | XP_005255181.1:p.Met2305Ile | |
| XM_005255125.4:c.6543G>T | XP_005255182.1:p.Met2181Ile | |
| XM_006720848.3:c.6699G>T | XP_006720911.1:p.Met2233Ile | |
| XM_011522381.2:c.6207G>T | XP_011520683.1:p.Met2069Ile | |
| XM_017022944.1:c.6954G>T | XP_016878433.1:p.Met2318Ile | |
| NM_004380.3:c.6960G>T MANE Select | NP_004371.2:p.Met2320Ile |