Linked Data
dbSNP Id:
rs776760001
ExAC:
20:31024261 T / C
gnomAD v2:
20-31024261-T-C
gnomAD v3:
20-32436458-T-C
gnomAD v4:
20-32436458-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436458T>C , CM000682.2:g.32436458T>C | GRCh38 |
| NC_000020.10:g.31024261T>C , CM000682.1:g.31024261T>C | GRCh37 |
| NC_000020.9:g.30487922T>C | NCBI36 |
| NG_027868.1:g.83115T>C , LRG_630:g.83115T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3746T>C MANE Select | ENSP00000364839.4:p.Met1249Thr | |
| ENST00000646985.1:c.3563T>C | ENSP00000495053.1:p.Met1188Thr | |
| ENST00000647223.1:n.6099T>C | ||
| ENST00000651418.1:c.1869+1877T>C | ENSP00000499150.1:n.1869+1877T>C | |
| ENST00000306058.9:c.3731T>C | ENSP00000305119.5:p.Met1244Thr | |
| ENST00000375687.8:c.3746T>C | ENSP00000364839.4:p.Met1249Thr | |
| ENST00000613218.4:c.3746T>C | ENSP00000480487.1:p.Met1249Thr | |
| ENST00000620121.4:c.3746T>C | ENSP00000481978.1:p.Met1249Thr | |
| NM_015338.5:c.3746T>C , LRG_630t1:c.3746T>C | NP_056153.2:p.Met1249Thr | |
| XM_006723727.2:c.3743T>C | XP_006723790.1:p.Met1248Thr | |
| XM_006723728.2:c.3716T>C | XP_006723791.1:p.Met1239Thr | |
| XM_006723730.2:c.3662T>C | XP_006723793.1:p.Met1221Thr | |
| XM_006723732.2:c.3563T>C | XP_006723795.1:p.Met1188Thr | |
| XM_006723733.1:c.3062T>C | XP_006723796.1:p.Met1021Thr | |
| XM_011528647.1:c.4010T>C | XP_011526949.1:p.Met1337Thr | |
| XM_011528648.1:c.4007T>C | XP_011526950.1:p.Met1336Thr | |
| XM_011528649.1:c.3926T>C | XP_011526951.1:p.Met1309Thr | |
| XM_011528650.1:c.3857T>C | XP_011526952.1:p.Met1286Thr | |
| XM_011528651.1:c.3725T>C | XP_011526953.1:p.Met1242Thr | |
| XM_011528652.1:c.3662T>C | XP_011526954.1:p.Met1221Thr | |
| NM_001363734.1:c.3563T>C | NP_001350663.1:p.Met1188Thr | |
| XM_006723727.3:c.3743T>C | XP_006723790.1:p.Met1248Thr | |
| XM_006723728.3:c.3716T>C | XP_006723791.1:p.Met1239Thr | |
| XM_006723730.4:c.3662T>C | XP_006723793.1:p.Met1221Thr | |
| XM_011528648.3:c.4007T>C | XP_011526950.1:p.Met1336Thr | |
| XM_011528652.2:c.3662T>C | XP_011526954.1:p.Met1221Thr | |
| XM_017027704.1:c.3662T>C | XP_016883193.1:p.Met1221Thr | |
| XM_017027705.1:c.3662T>C | XP_016883194.1:p.Met1221Thr | |
| XM_017027706.1:c.3593T>C | XP_016883195.1:p.Met1198Thr | |
| NM_015338.6:c.3746T>C MANE Select | NP_056153.2:p.Met1249Thr |