Linked Data
dbSNP Id:
rs775480198
ExAC:
14:39536424 T / C
gnomAD v2:
14-39536424-T-C
gnomAD v4:
14-39067220-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.39067220T>C , CM000676.2:g.39067220T>C | GRCh38 |
| NC_000014.8:g.39536424T>C , CM000676.1:g.39536424T>C | GRCh37 |
| NC_000014.7:g.38606175T>C | NCBI36 |
| NG_012157.1:g.41014A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307712.11:c.1180A>G MANE Select | ENSP00000306881.6:p.Met394Val | |
| ENST00000307712.10:c.1180A>G | ENSP00000306881.6:p.Met394Val | |
| ENST00000537403.5:c.574A>G | ENSP00000444193.1:p.Met192Val | |
| ENST00000545328.6:c.1093A>G | ENSP00000445393.2:p.Met365Val | |
| NM_006364.2:c.1180A>G | NP_006355.2:p.Met394Val | |
| XM_005267262.1:c.1180A>G | XP_005267319.1:p.Met394Val | |
| XM_011536355.1:c.1180A>G | XP_011534657.1:p.Met394Val | |
| NM_006364.3:c.1180A>G | NP_006355.2:p.Met394Val | |
| XM_005267262.2:c.1180A>G | XP_005267319.1:p.Met394Val | |
| XM_011536355.3:c.1180A>G | XP_011534657.1:p.Met394Val | |
| XM_017020928.2:c.1180A>G | XP_016876417.1:p.Met394Val | |
| NM_006364.4:c.1180A>G MANE Select | NP_006355.2:p.Met394Val |