Linked Data
dbSNP Id:
rs199765467
ExAC:
12:6979393 A / G
gnomAD v2:
12-6979393-A-G
gnomAD v3:
12-6870229-A-G
gnomAD v4:
12-6870229-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6870229A>G , CM000674.2:g.6870229A>G | GRCh38 |
| NC_000012.11:g.6979393A>G , CM000674.1:g.6979393A>G | GRCh37 |
| NC_000012.10:g.6849654A>G | NCBI36 |
| NG_011948.1:g.7810A>G | |
| NG_013308.1:g.8129T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.632-36A>G MANE Select | ENSP00000379933.4:n.632-36A>G | |
| ENST00000229270.8:c.743-36A>G | ENSP00000229270.4:n.743-36A>G | |
| ENST00000396705.9:c.632-36A>G | ENSP00000379933.4:n.632-36A>G | |
| ENST00000474253.1:n.121-36A>G | ||
| ENST00000488464.6:c.386-36A>G | ENSP00000475620.1:n.386-36A>G | |
| ENST00000535434.5:c.386-36A>G | ENSP00000443599.1:n.386-36A>G | |
| ENST00000613953.4:c.743-36A>G | ENSP00000484435.1:n.743-36A>G | |
| NM_000365.5:c.632-36A>G | NP_000356.1:n.632-36A>G | |
| NM_001159287.1:c.743-36A>G | NP_001152759.1:n.743-36A>G | |
| NM_001258026.1:c.386-36A>G | NP_001244955.1:n.386-36A>G | |
| XR_002957378.1:n.1640-36A>G | ||
| NM_000365.6:c.632-36A>G MANE Select | NP_000356.1:n.632-36A>G | |
| NM_001258026.2:c.386-36A>G | NP_001244955.1:n.386-36A>G |