gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.57361195A>T , CM000679.2:g.57361195A>T | GRCh38 |
| NC_000017.10:g.55438556A>T , CM000679.1:g.55438556A>T | GRCh37 |
| NC_000017.9:g.52793555A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284073.7:c.313-40184A>T MANE Select | ENSP00000284073.2:n.313-40184A>T | |
| ENST00000674961.1:c.297-9754A>T | ||
| ENST00000674964.1:c.313-40184A>T | ENSP00000502137.1:n.313-40184A>T | |
| ENST00000675656.1:c.274-40184A>T | ENSP00000501595.1:n.274-40184A>T | |
| ENST00000675822.1:c.239-40184A>T | ENSP00000502227.1:n.239-40184A>T | |
| ENST00000676073.1:c.333-40184A>T | ||
| ENST00000284073.6:c.313-40184A>T | ENSP00000284073.2:n.313-40184A>T | |
| ENST00000322684.7:c.301-40184A>T | ENSP00000313616.3:n.301-40184A>T | |
| ENST00000416426.6:c.247-40184A>T | ENSP00000414671.2:n.247-40184A>T | |
| ENST00000442934.6:c.130-40184A>T | ENSP00000392607.2:n.130-40184A>T | |
| ENST00000579180.2:c.1-40184A>T | ENSP00000462264.1:n.1-40184A>T | |
| ENST00000579590.5:c.301-40184A>T | ENSP00000462914.1:n.301-40184A>T | |
| ENST00000581776.5:c.*91-3727A>T | ENSP00000463227.1:n.*91-3727A>T | |
| ENST00000582453.5:n.282-40184A>T | ||
| NM_138962.2:c.313-40184A>T | NP_620412.1:n.313-40184A>T | |
| NM_170721.1:c.301-40184A>T | NP_733839.1:n.301-40184A>T | |
| XM_005257014.2:c.313-40184A>T | XP_005257071.1:n.313-40184A>T | |
| XM_005257015.2:c.313-40184A>T | XP_005257072.1:n.313-40184A>T | |
| XM_005257018.2:c.313-40184A>T | XP_005257075.1:n.313-40184A>T | |
| XM_006721681.2:c.313-40184A>T | XP_006721744.1:n.313-40184A>T | |
| XM_011524284.1:c.313-40184A>T | XP_011522586.1:n.313-40184A>T | |
| XM_011524285.1:c.313-40184A>T | XP_011522587.1:n.313-40184A>T | |
| XM_011524286.1:c.-43-9754A>T | XP_011522588.1:n.-43-9754A>T | |
| NM_001322250.1:c.247-40184A>T | NP_001309179.1:n.247-40184A>T | |
| NM_001322251.1:c.313-40184A>T | NP_001309180.1:n.313-40184A>T | |
| NM_138962.3:c.313-40184A>T | NP_620412.1:n.313-40184A>T | |
| XM_005257014.3:c.313-40184A>T | XP_005257071.1:n.313-40184A>T | |
| XM_005257015.3:c.313-40184A>T | XP_005257072.1:n.313-40184A>T | |
| XM_011524286.2:c.-43-9754A>T | XP_011522588.1:n.-43-9754A>T | |
| XM_017024147.2:c.312+99003A>T | XP_016879636.1:n.312+99003A>T | |
| XM_017024148.1:c.313-40184A>T | XP_016879637.1:n.313-40184A>T | |
| XM_017024149.2:c.52-40184A>T | XP_016879638.1:n.52-40184A>T | |
| NM_138962.4:c.313-40184A>T MANE Select | NP_620412.1:n.313-40184A>T | |
| NM_001322251.2:c.313-40184A>T | NP_001309180.1:n.313-40184A>T | |
| NM_170721.2:c.301-40184A>T | NP_733839.1:n.301-40184A>T | |
| NM_001322250.2:c.247-40184A>T | NP_001309179.1:n.247-40184A>T |