Linked Data
dbSNP Id:
rs1353501769
gnomAD v2:
2-33682767-A-T
gnomAD v3:
2-33457700-A-T
gnomAD v4:
2-33457700-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.33457700A>T , CM000664.2:g.33457700A>T | GRCh38 |
| NC_000002.11:g.33682767A>T , CM000664.1:g.33682767A>T | GRCh37 |
| NC_000002.10:g.33536271A>T | NCBI36 |
| NG_053077.1:g.26353A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402538.7:c.-261+9757A>T | ENSP00000385886.3:n.-261+9757A>T | |
| ENST00000479528.5:n.149+9757A>T | ||
| ENST00000484909.5:n.390+9757A>T | ||
| ENST00000497723.6:n.303+9757A>T | ||
| NM_170672.2:c.-261+9757A>T | NP_733772.1:n.-261+9757A>T | |
| XM_011532746.1:c.-159+9757A>T | XP_011531048.1:n.-159+9757A>T | |
| NM_001349975.1:c.-383+9757A>T | NP_001336904.1:n.-383+9757A>T | |
| NM_001349978.1:c.-261+9757A>T | NP_001336907.1:n.-261+9757A>T | |
| XM_011532746.3:c.-159+9757A>T | XP_011531048.1:n.-159+9757A>T | |
| XM_017003759.2:c.-1635+9757A>T | XP_016859248.1:n.-1635+9757A>T | |
| NM_001349975.2:c.-383+9757A>T | NP_001336904.1:n.-383+9757A>T | |
| NM_001349978.2:c.-261+9757A>T | NP_001336907.1:n.-261+9757A>T | |
| NM_170672.3:c.-261+9757A>T | NP_733772.1:n.-261+9757A>T |