Linked Data
dbSNP Id:
rs1199355149
gnomAD v2:
6-31913990-T-G
gnomAD v3:
6-31946213-T-G
gnomAD v4:
6-31946213-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31946213T>G , CM000668.2:g.31946213T>G | GRCh38 |
| NC_000006.11:g.31913990T>G , CM000668.1:g.31913990T>G | GRCh37 |
| NC_000006.10:g.32021969T>G | NCBI36 |
| NG_008191.1:g.5270T>G , LRG_136:g.5270T>G | |
| NG_011730.1:g.23725T>G , LRG_26:g.23725T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.169T>G | ||
| ENST00000483004.2:c.-9T>G | ENSP00000419887.2:n.-9T>G | |
| ENST00000497841.6:c.-9T>G | ENSP00000513847.1:n.-9T>G | |
| ENST00000698628.1:c.-9T>G | ENSP00000513848.1:n.-9T>G | |
| ENST00000698629.1:n.169T>G | ||
| ENST00000698630.1:n.153T>G | ||
| ENST00000698631.1:n.148T>G | ||
| ENST00000698632.1:n.120T>G | ||
| ENST00000698633.1:n.90T>G | ||
| ENST00000698636.1:n.214T>G | ||
| ENST00000425368.7:c.-9T>G MANE Select | ENSP00000416561.2:n.-9T>G | |
| ENST00000425368.6:c.-9T>G | ENSP00000416561.2:n.-9T>G | |
| ENST00000456570.5:c.1571-160T>G | ENSP00000410815.1:n.1571-160T>G | |
| ENST00000460718.5:c.-9T>G | ENSP00000417793.1:n.-9T>G | |
| ENST00000472581.1:n.239T>G | ||
| ENST00000475617.5:c.-9T>G | ENSP00000420090.1:n.-9T>G | |
| ENST00000477310.1:c.1352-794T>G | ENSP00000418996.1:n.1352-794T>G | |
| NM_001710.5:c.-9T>G , LRG_136t1:c.-9T>G | NP_001701.2:n.-9T>G | |
| NM_001710.6:c.-9T>G MANE Select | NP_001701.2:n.-9T>G |