gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.11634315T>A , CM000665.2:g.11634315T>A | GRCh38 |
| NC_000003.11:g.11675789T>A , CM000665.1:g.11675789T>A | GRCh37 |
| NC_000003.10:g.11650789T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430365.7:c.82+9122A>T MANE Select | ENSP00000404251.2:n.82+9122A>T | |
| ENST00000273038.7:c.65-32293A>T | ENSP00000273038.3:n.65-32293A>T | |
| ENST00000417206.6:c.65-32293A>T | ENSP00000391932.2:n.65-32293A>T | |
| ENST00000417466.5:c.80-32293A>T | ENSP00000411670.2:n.80-32293A>T | |
| ENST00000418000.5:c.65-32293A>T | ENSP00000394439.1:n.65-32293A>T | |
| ENST00000419541.4:c.65-32293A>T | ENSP00000395557.1:n.65-32293A>T | |
| ENST00000426568.5:c.80-32293A>T | ENSP00000413030.2:n.80-32293A>T | |
| ENST00000430365.6:c.82+9122A>T | ENSP00000404251.2:n.82+9122A>T | |
| ENST00000445411.5:c.65-32293A>T | ENSP00000412923.1:n.65-32293A>T | |
| ENST00000623028.1:c.65-32293A>T | ENSP00000485472.1:n.65-32293A>T | |
| NM_001128219.2:c.82+9122A>T | NP_001121691.1:n.82+9122A>T | |
| NM_001284390.1:c.80-32293A>T | NP_001271319.1:n.80-32293A>T | |
| NM_014667.3:c.65-32293A>T | NP_055482.2:n.65-32293A>T | |
| XM_011534267.1:c.68-32293A>T | XP_011532569.1:n.68-32293A>T | |
| XM_011534270.1:c.82+9122A>T | XP_011532572.1:n.82+9122A>T | |
| XM_011534267.2:c.68-32293A>T | XP_011532569.1:n.68-32293A>T | |
| XM_017007541.1:c.80-32293A>T | XP_016863030.1:n.80-32293A>T | |
| XM_017007542.1:c.65-32293A>T | XP_016863031.1:n.65-32293A>T | |
| XM_024453835.1:c.65-32293A>T | XP_024309603.1:n.65-32293A>T | |
| XM_024453836.1:c.65-32293A>T | XP_024309604.1:n.65-32293A>T | |
| XM_024453837.1:c.65-32293A>T | XP_024309605.1:n.65-32293A>T | |
| NM_001128219.3:c.82+9122A>T MANE Select | NP_001121691.1:n.82+9122A>T | |
| NM_001284390.2:c.80-32293A>T | NP_001271319.1:n.80-32293A>T | |
| NM_014667.4:c.65-32293A>T | NP_055482.2:n.65-32293A>T |