Linked Data
dbSNP Id:
rs1478679526
gnomAD v2:
13-98993971-G-T
gnomAD v3:
13-98341717-G-T
gnomAD v4:
13-98341717-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.98341717G>T , CM000675.2:g.98341717G>T | GRCh38 |
| NC_000013.10:g.98993971G>T , CM000675.1:g.98993971G>T | GRCh37 |
| NC_000013.9:g.97791972G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319562.11:c.172-2045G>T MANE Select | ENSP00000322926.6:n.172-2045G>T | |
| ENST00000596580.2:c.172-2045G>T | ENSP00000490391.1:n.172-2045G>T | |
| ENST00000319562.10:c.172-2045G>T | ENSP00000322926.6:n.172-2045G>T | |
| ENST00000595380.5:n.31-2045G>T | ||
| ENST00000595437.5:c.172-2045G>T | ENSP00000471242.1:n.172-2045G>T | |
| ENST00000595817.5:n.352-2045G>T | ||
| ENST00000596467.5:n.31-2045G>T | ||
| ENST00000596613.5:n.532-2045G>T | ||
| ENST00000598389.5:c.172-2045G>T | ENSP00000469712.1:n.172-2045G>T | |
| ENST00000599040.5:c.-498-2045G>T | ENSP00000469420.1:n.-498-2045G>T | |
| ENST00000600032.5:n.383-2045G>T | ||
| ENST00000601133.5:n.381-2045G>T | ||
| ENST00000601361.1:n.407-2045G>T | ||
| ENST00000601853.5:n.31-2045G>T | ||
| ENST00000602263.5:n.327+702G>T | ||
| ENST00000627049.2:c.172-2045G>T | ENSP00000486285.1:n.172-2045G>T | |
| NM_001286839.1:c.172-2045G>T | NP_001273768.1:n.172-2045G>T | |
| NM_005766.3:c.172-2045G>T | NP_005757.1:n.172-2045G>T | |
| XM_011521046.1:c.172-2045G>T | XP_011519348.1:n.172-2045G>T | |
| XM_011521046.2:c.172-2045G>T | XP_011519348.1:n.172-2045G>T | |
| XM_017020312.1:c.172-2045G>T | XP_016875801.1:n.172-2045G>T | |
| XM_017020313.2:c.19-2045G>T | XP_016875802.1:n.19-2045G>T | |
| NM_001286839.2:c.172-2045G>T | NP_001273768.1:n.172-2045G>T | |
| NM_005766.4:c.172-2045G>T MANE Select | NP_005757.1:n.172-2045G>T |