Linked Data
dbSNP Id:
rs11572951
gnomAD v2:
12-124129460-T-G
gnomAD v3:
12-123644913-T-G
gnomAD v4:
12-123644913-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123644913T>G , CM000674.2:g.123644913T>G | GRCh38 |
| NC_000012.11:g.124129460T>G , CM000674.1:g.124129460T>G | GRCh37 |
| NC_000012.10:g.122695413T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000543341.7:c.94-542T>G MANE Select | ENSP00000445162.1:n.94-542T>G | |
| ENST00000228955.11:c.-30-542T>G | ENSP00000228955.7:n.-30-542T>G | |
| ENST00000536375.5:c.94-542T>G | ENSP00000441894.1:n.94-542T>G | |
| ENST00000537368.5:n.125-542T>G | ||
| ENST00000537695.5:n.121-542T>G | ||
| ENST00000538533.5:c.-30-542T>G | ENSP00000442977.1:n.-30-542T>G | |
| ENST00000538845.5:c.139-542T>G | ENSP00000446097.1:n.139-542T>G | |
| ENST00000539994.5:c.64-542T>G | ENSP00000446429.1:n.64-542T>G | |
| ENST00000542279.5:c.94-542T>G | ENSP00000439121.1:n.94-542T>G | |
| ENST00000543005.5:n.45-542T>G | ||
| ENST00000543341.6:c.94-542T>G | ENSP00000445162.1:n.94-542T>G | |
| ENST00000543415.5:c.-30-542T>G | ENSP00000440482.1:n.-30-542T>G | |
| ENST00000618160.4:c.-181-542T>G | ENSP00000481711.1:n.-181-542T>G | |
| NM_001271866.1:c.94-542T>G | NP_001258795.1:n.94-542T>G | |
| NM_001271867.1:c.-30-542T>G | NP_001258796.1:n.-30-542T>G | |
| NM_001271868.1:c.-181-542T>G | NP_001258797.1:n.-181-542T>G | |
| NM_001516.4:c.94-542T>G | NP_001507.2:n.94-542T>G | |
| XM_017019228.2:c.-353-542T>G | XP_016874717.1:n.-353-542T>G | |
| XR_001748675.1:n.125-542T>G | ||
| NM_001516.5:c.94-542T>G MANE Select | NP_001507.2:n.94-542T>G | |
| NM_001271866.2:c.94-542T>G | NP_001258795.1:n.94-542T>G | |
| NM_001271867.2:c.-30-542T>G | NP_001258796.1:n.-30-542T>G | |
| NM_001271868.2:c.-181-542T>G | NP_001258797.1:n.-181-542T>G |