gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.52992904A>T , CM000680.2:g.52992904A>T | GRCh38 |
| NC_000018.9:g.50519274A>T , CM000680.1:g.50519274A>T | GRCh37 |
| NC_000018.8:g.48773272A>T | NCBI36 |
| NG_013341.1:g.657733A>T | |
| NG_013341.2:g.657733A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.985+67534A>T MANE Select | ENSP00000389140.2:n.985+67534A>T | |
| ENST00000304775.12:c.786+67534A>T | ||
| ENST00000412726.5:c.916+67534A>T | ENSP00000397322.2:n.916+67534A>T | |
| ENST00000442544.6:c.985+67534A>T | ENSP00000389140.2:n.985+67534A>T | |
| ENST00000578949.1:c.-51+58014A>T | ENSP00000463766.1:n.-51+58014A>T | |
| ENST00000579883.1:n.196+67534A>T | ||
| ENST00000580146.1:n.237+51739A>T | ||
| ENST00000581580.5:c.-51+27778A>T | ENSP00000464582.1:n.-51+27778A>T | |
| NM_005215.3:c.985+67534A>T | NP_005206.2:n.985+67534A>T | |
| XM_011525843.1:c.985+67534A>T | XP_011524145.1:n.985+67534A>T | |
| XM_011525844.1:c.-51+27778A>T | XP_011524146.1:n.-51+27778A>T | |
| XM_011525845.1:c.985+67534A>T | XP_011524147.1:n.985+67534A>T | |
| XM_011525846.1:c.985+67534A>T | XP_011524148.1:n.985+67534A>T | |
| XM_011525844.2:c.-51+27778A>T | XP_011524146.1:n.-51+27778A>T | |
| XM_017025568.1:c.985+67534A>T | XP_016881057.1:n.985+67534A>T | |
| XM_017025569.1:c.985+67534A>T | XP_016881058.1:n.985+67534A>T | |
| XM_017025570.1:c.-51+27778A>T | XP_016881059.1:n.-51+27778A>T | |
| NM_005215.4:c.985+67534A>T MANE Select | NP_005206.2:n.985+67534A>T |