Linked Data
dbSNP Id:
rs768181832
ExAC:
16:3778107 A / G
gnomAD v2:
16-3778107-A-G
gnomAD v4:
16-3728106-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728106A>G , CM000678.2:g.3728106A>G | GRCh38 |
| NC_000016.9:g.3778107A>G , CM000678.1:g.3778107A>G | GRCh37 |
| NC_000016.8:g.3718108A>G | NCBI36 |
| NG_009873.1:g.157015T>C | |
| NG_009873.2:g.157608T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6941T>C MANE Select | ENSP00000262367.5:p.Met2314Thr | |
| ENST00000262367.9:c.6941T>C | ENSP00000262367.5:p.Met2314Thr | |
| ENST00000382070.7:c.6827T>C | ENSP00000371502.3:p.Met2276Thr | |
| NM_001079846.1:c.6827T>C | NP_001073315.1:p.Met2276Thr | |
| NM_004380.2:c.6941T>C | NP_004371.2:p.Met2314Thr | |
| XM_005255124.3:c.6896T>C | XP_005255181.1:p.Met2299Thr | |
| XM_005255125.3:c.6524T>C | XP_005255182.1:p.Met2175Thr | |
| XM_006720848.2:c.6680T>C | XP_006720911.1:p.Met2227Thr | |
| XM_011522380.1:c.6887T>C | XP_011520682.1:p.Met2296Thr | |
| XM_011522381.1:c.6188T>C | XP_011520683.1:p.Met2063Thr | |
| XM_005255124.4:c.6896T>C | XP_005255181.1:p.Met2299Thr | |
| XM_005255125.4:c.6524T>C | XP_005255182.1:p.Met2175Thr | |
| XM_006720848.3:c.6680T>C | XP_006720911.1:p.Met2227Thr | |
| XM_011522381.2:c.6188T>C | XP_011520683.1:p.Met2063Thr | |
| XM_017022944.1:c.6935T>C | XP_016878433.1:p.Met2312Thr | |
| NM_004380.3:c.6941T>C MANE Select | NP_004371.2:p.Met2314Thr |