gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.64281477A>C , CM000666.2:g.64281477A>C | GRCh38 |
| NC_000004.11:g.65147195A>C , CM000666.1:g.65147195A>C | GRCh37 |
| NC_000004.10:g.64829790A>C | NCBI36 |
| NG_053152.1:g.133033T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381210.8:c.915T>G MANE Select | ENSP00000370607.3:p.Tyr305Ter | |
| ENST00000381210.7:c.915T>G | ENSP00000370607.3:p.Tyr305Ter | |
| ENST00000507440.5:c.915T>G | ENSP00000426043.1:p.Tyr305Ter | |
| ENST00000511997.1:c.60T>G | ENSP00000423975.1:p.Tyr20Ter | |
| NM_001010874.4:c.915T>G | NP_001010874.2:p.Tyr305Ter | |
| XM_005265662.3:c.870T>G | XP_005265719.1:p.Tyr290Ter | |
| XM_005265663.2:c.915T>G | XP_005265720.1:p.Tyr305Ter | |
| XM_005265664.2:c.915T>G | XP_005265721.1:p.Tyr305Ter | |
| XM_005265665.2:c.915T>G | XP_005265722.1:p.Tyr305Ter | |
| NM_001363796.1:c.915T>G | NP_001350725.1:p.Tyr305Ter | |
| XM_005265662.5:c.870T>G | XP_005265719.1:p.Tyr290Ter | |
| XM_005265664.3:c.915T>G | XP_005265721.1:p.Tyr305Ter | |
| XM_005265665.4:c.915T>G | XP_005265722.1:p.Tyr305Ter | |
| XM_024453961.1:c.870T>G | XP_024309729.1:p.Tyr290Ter | |
| XM_024453962.1:c.870T>G | XP_024309730.1:p.Tyr290Ter | |
| NM_001010874.5:c.915T>G MANE Select | NP_001010874.2:p.Tyr305Ter |