gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.75491177A>T , CM000666.2:g.75491177A>T | GRCh38 |
| NC_000004.11:g.76416387A>T , CM000666.1:g.76416387A>T | GRCh37 |
| NC_000004.10:g.76635411A>T | NCBI36 |
| NG_029152.1:g.28254T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324439.10:c.536+434T>A MANE Select | ENSP00000321239.5:n.536+434T>A | |
| ENST00000324439.9:c.536+434T>A | ENSP00000321239.5:n.536+434T>A | |
| ENST00000380840.6:c.416+434T>A | ENSP00000370220.2:n.416+434T>A | |
| ENST00000504085.5:c.*236+406T>A | ENSP00000421958.1:n.*236+406T>A | |
| ENST00000505105.5:c.536+434T>A | ENSP00000424631.1:n.536+434T>A | |
| ENST00000505514.5:n.985+406T>A | ||
| ENST00000507014.1:c.390-476T>A | ENSP00000424472.1:n.390-476T>A | |
| ENST00000512567.5:n.462+434T>A | ||
| ENST00000512706.5:c.470+434T>A | ENSP00000423976.1:n.470+434T>A | |
| ENST00000513257.5:c.510-476T>A | ENSP00000421084.1:n.510-476T>A | |
| ENST00000513909.5:c.544+434T>A | ENSP00000427205.1:n.544+434T>A | |
| ENST00000514589.5:n.1188T>A | ||
| NM_001009922.2:c.510-476T>A | NP_001009922.1:n.510-476T>A | |
| NM_001278536.1:c.416+434T>A | NP_001265465.1:n.416+434T>A | |
| NM_001278537.1:c.390-476T>A | NP_001265466.1:n.390-476T>A | |
| NM_001278538.1:c.470+434T>A | NP_001265467.1:n.470+434T>A | |
| NM_001278539.1:c.155+434T>A | NP_001265468.1:n.155+434T>A | |
| NM_015436.3:c.536+434T>A | NP_056251.2:n.536+434T>A | |
| NR_037913.1:n.708+406T>A | ||
| NR_037914.1:n.704+406T>A | ||
| NR_103723.1:n.680+434T>A | ||
| NR_103724.1:n.680+434T>A | ||
| NR_103725.1:n.428-476T>A | ||
| XM_011531838.1:c.155+434T>A | XP_011530140.1:n.155+434T>A | |
| XM_011531839.1:c.155+434T>A | XP_011530141.1:n.155+434T>A | |
| XM_011531838.2:c.155+434T>A | XP_011530140.1:n.155+434T>A | |
| XM_011531839.2:c.155+434T>A | XP_011530141.1:n.155+434T>A | |
| XM_024453984.1:c.129-476T>A | XP_024309752.1:n.129-476T>A | |
| NM_001009922.3:c.510-476T>A | NP_001009922.1:n.510-476T>A | |
| NM_001278536.2:c.416+434T>A | NP_001265465.1:n.416+434T>A | |
| NM_001278537.2:c.390-476T>A | NP_001265466.1:n.390-476T>A | |
| NM_001278538.2:c.470+434T>A | NP_001265467.1:n.470+434T>A | |
| NM_001278539.2:c.155+434T>A | NP_001265468.1:n.155+434T>A | |
| NM_001387136.1:c.155+434T>A | NP_001374065.1:n.155+434T>A | |
| NM_001387137.1:c.155+434T>A | NP_001374066.1:n.155+434T>A | |
| NM_015436.4:c.536+434T>A MANE Select | NP_056251.2:n.536+434T>A |