gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11770112G>T , CM000670.2:g.11770112G>T | GRCh38 |
| NC_000008.10:g.11627621G>T , CM000670.1:g.11627621G>T | GRCh37 |
| NC_000008.9:g.11665030G>T | NCBI36 |
| NG_053043.1:g.5450G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284503.7:c.-226G>T MANE Select | ENSP00000284503.6:n.-226G>T | |
| ENST00000284503.6:c.-226G>T | ENSP00000284503.6:n.-226G>T | |
| ENST00000403422.7:c.-46+321G>T | ENSP00000384070.3:n.-46+321G>T | |
| ENST00000436750.7:c.-3+321G>T | ENSP00000394023.2:n.-3+321G>T | |
| ENST00000455213.6:c.-164-62G>T | ENSP00000397538.2:n.-164-62G>T | |
| ENST00000528113.5:c.-3+321G>T | ENSP00000437004.1:n.-3+321G>T | |
| ENST00000528323.5:c.-164-62G>T | ENSP00000435657.1:n.-164-62G>T | |
| NM_001135746.1:c.-3+321G>T | NP_001129218.1:n.-3+321G>T | |
| NM_001135747.1:c.-46+321G>T | NP_001129219.1:n.-46+321G>T | |
| NM_001135748.1:c.-164-62G>T | NP_001129220.1:n.-164-62G>T | |
| NM_145043.2:c.-226G>T | NP_659480.1:n.-226G>T | |
| XM_005272381.1:c.-164-62G>T | XP_005272438.1:n.-164-62G>T | |
| XM_005272382.1:c.-191+321G>T | XP_005272439.1:n.-191+321G>T | |
| XM_005272383.1:c.-269G>T | XP_005272440.1:n.-269G>T | |
| NM_001135746.2:c.-3+321G>T | NP_001129218.1:n.-3+321G>T | |
| NM_001135747.2:c.-46+321G>T | NP_001129219.1:n.-46+321G>T | |
| NM_001135748.2:c.-164-62G>T | NP_001129220.1:n.-164-62G>T | |
| NM_001349439.1:c.-191+321G>T | NP_001336368.1:n.-191+321G>T | |
| NM_001349440.1:c.-414G>T | NP_001336369.1:n.-414G>T | |
| NM_001349441.1:c.-269G>T | NP_001336370.1:n.-269G>T | |
| NM_001349442.1:c.-164-62G>T | NP_001336371.1:n.-164-62G>T | |
| NM_145043.3:c.-226G>T | NP_659480.1:n.-226G>T | |
| NR_146180.1:n.167+321G>T | ||
| NR_146181.1:n.168-62G>T | ||
| NR_146182.1:n.167+321G>T | ||
| NM_145043.4:c.-226G>T MANE Select | NP_659480.1:n.-226G>T | |
| NM_001135746.3:c.-3+321G>T | NP_001129218.1:n.-3+321G>T | |
| NM_001135747.3:c.-46+321G>T | NP_001129219.1:n.-46+321G>T | |
| NM_001135748.3:c.-164-62G>T | NP_001129220.1:n.-164-62G>T | |
| NM_001349439.2:c.-191+321G>T | NP_001336368.1:n.-191+321G>T | |
| NM_001349440.2:c.-414G>T | NP_001336369.1:n.-414G>T | |
| NM_001349441.2:c.-269G>T | NP_001336370.1:n.-269G>T | |
| NM_001349442.2:c.-164-62G>T | NP_001336371.1:n.-164-62G>T | |
| NR_146180.2:n.82+321G>T | ||
| NR_146181.2:n.83-62G>T | ||
| NR_146182.2:n.82+321G>T |