Linked Data
dbSNP Id:
rs760290833
ExAC:
18:55217975 G / A
gnomAD v2:
18-55217975-G-A
gnomAD v3:
18-57550743-G-A
gnomAD v4:
18-57550743-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57550743G>A , CM000680.2:g.57550743G>A | GRCh38 |
| NC_000018.9:g.55217975G>A , CM000680.1:g.55217975G>A | GRCh37 |
| NC_000018.8:g.53368973G>A | NCBI36 |
| NG_008175.1:g.40995C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262093.11:c.1241C>T MANE Select | ENSP00000262093.6:p.Thr414Ile | |
| ENST00000382873.8:c.1025C>T | ENSP00000372326.4:p.Thr342Ile | |
| ENST00000651787.1:n.1347C>T | ||
| ENST00000652755.1:c.1259C>T | ENSP00000498358.1:p.Thr420Ile | |
| ENST00000262093.9:c.1241C>T | ENSP00000262093.5:p.Thr414Ile | |
| ENST00000382873.7:c.1259C>T | ENSP00000372326.3:p.Thr420Ile | |
| ENST00000585494.5:c.*968C>T | ENSP00000465243.1:n.*968C>T | |
| NM_000140.3:c.1241C>T | NP_000131.2:p.Thr414Ile | |
| NM_001012515.2:c.1259C>T | NP_001012533.1:p.Thr420Ile | |
| XM_011525881.1:c.1160C>T | XP_011524183.1:p.Thr387Ile | |
| XM_011525882.1:c.1025C>T | XP_011524184.1:p.Thr342Ile | |
| NM_000140.4:c.1241C>T | NP_000131.2:p.Thr414Ile | |
| NM_001012515.3:c.1259C>T | NP_001012533.1:p.Thr420Ile | |
| XM_011525882.2:c.1025C>T | XP_011524184.1:p.Thr342Ile | |
| XM_017025614.2:c.1142C>T | XP_016881103.1:p.Thr381Ile | |
| NM_000140.5:c.1241C>T MANE Select | NP_000131.2:p.Thr414Ile | |
| NM_001012515.4:c.1259C>T | NP_001012533.1:p.Thr420Ile | |
| NM_001371094.1:c.1142C>T | NP_001358023.1:p.Thr381Ile | |
| NM_001371095.1:c.1025C>T | NP_001358024.1:p.Thr342Ile | |
| NM_001374778.1:c.1181C>T | NP_001361707.1:p.Thr394Ile |