gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19877120T>G , CM000684.2:g.19877120T>G | GRCh38 |
| NC_000022.10:g.19864643T>G , CM000684.1:g.19864643T>G | GRCh37 |
| NC_000022.9:g.18244643T>G | NCBI36 |
| NG_011835.1:g.69717A>C , LRG_417:g.69717A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.1560A>C MANE Select | ENSP00000383365.1:p.Thr520= | |
| ENST00000400518.5:c.1470A>C | ENSP00000383362.1:p.Thr490= | |
| ENST00000400519.6:c.1557A>C | ENSP00000383363.1:p.Thr519= | |
| ENST00000400521.6:c.1560A>C | ENSP00000383365.1:p.Thr520= | |
| ENST00000400525.6:c.1491A>C | ENSP00000383369.3:p.Thr497= | |
| ENST00000462330.5:c.483A>C | ENSP00000485603.2:p.Thr161= | |
| ENST00000462843.2:c.510A>C | ENSP00000485466.2:p.Thr170= | |
| ENST00000474308.5:c.*89A>C | ENSP00000485665.1:n.*89A>C | |
| ENST00000485358.5:c.528A>C | ENSP00000485499.2:p.Thr176= | |
| ENST00000487165.5:n.1654A>C | ||
| ENST00000494454.5:n.1634A>C | ||
| ENST00000495655.2:n.1104A>C | ||
| ENST00000542719.6:c.1272A>C | ENSP00000485128.2:p.Thr424= | |
| ENST00000634471.1:n.621A>C | ||
| ENST00000634537.1:c.789A>C | ENSP00000489208.1:p.Thr263= | |
| NM_006440.4:c.1560A>C | NP_006431.2:p.Thr520= | |
| NM_001352300.1:c.1557A>C | NP_001339229.1:p.Thr519= | |
| NM_001352301.1:c.1470A>C | NP_001339230.1:p.Thr490= | |
| NM_001352302.1:c.1272A>C | NP_001339231.1:p.Thr424= | |
| NR_147957.1:n.1670A>C | ||
| NM_006440.5:c.1560A>C MANE Select | NP_006431.2:p.Thr520= | |
| NM_001352300.2:c.1557A>C | NP_001339229.1:p.Thr519= | |
| NR_147957.2:n.1496A>C | ||
| NM_001352301.2:c.1470A>C | NP_001339230.1:p.Thr490= | |
| NM_001352302.2:c.1272A>C | NP_001339231.1:p.Thr424= |