Linked Data
dbSNP Id:
rs13075948
gnomAD v2:
3-30683506-C-T
gnomAD v3:
3-30642014-C-T
gnomAD v4:
3-30642014-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30642014C>T , CM000665.2:g.30642014C>T | GRCh38 |
| NC_000003.11:g.30683506C>T , CM000665.1:g.30683506C>T | GRCh37 |
| NC_000003.10:g.30658510C>T | NCBI36 |
| NG_007490.1:g.40513C>T , LRG_779:g.40513C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295754.10:c.95-2733C>T MANE Select | ENSP00000295754.5:n.95-2733C>T | |
| ENST00000672866.1:n.1691-2733C>T | ||
| ENST00000673250.1:n.219-2733C>T | ||
| ENST00000295754.9:c.95-2733C>T | ENSP00000295754.5:n.95-2733C>T | |
| ENST00000359013.4:c.170-2733C>T | ENSP00000351905.4:n.170-2733C>T | |
| NM_001024847.2:c.170-2733C>T , LRG_779t1:c.170-2733C>T | NP_001020018.1:n.170-2733C>T | |
| NM_003242.5:c.95-2733C>T | NP_003233.4:n.95-2733C>T | |
| XM_011534043.1:c.122-2733C>T | XP_011532345.1:n.122-2733C>T | |
| XM_011534044.1:c.47-2733C>T | XP_011532346.1:n.47-2733C>T | |
| XM_011534045.1:c.-11-2733C>T | XP_011532347.1:n.-11-2733C>T | |
| XM_011534043.2:c.122-2733C>T | XP_011532345.1:n.122-2733C>T | |
| XM_011534045.3:c.-11-2733C>T | XP_011532347.1:n.-11-2733C>T | |
| XM_017007106.1:c.-11-2733C>T | XP_016862595.1:n.-11-2733C>T | |
| NM_003242.6:c.95-2733C>T MANE Select | NP_003233.4:n.95-2733C>T |