Linked Data
dbSNP Id:
rs1270515237
gnomAD v2:
7-5568538-G-A
gnomAD v3:
7-5528907-G-A
gnomAD v4:
7-5528907-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5528907G>A , CM000669.2:g.5528907G>A | GRCh38 |
| NC_000007.13:g.5568538G>A , CM000669.1:g.5568538G>A | GRCh37 |
| NC_000007.12:g.5535064G>A | NCBI36 |
| NG_007992.1:g.6695C>T , LRG_132:g.6695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432588.6:c.364-188C>T | ENSP00000407473.2:n.364-188C>T | |
| ENST00000473257.3:c.235-188C>T | ENSP00000501773.1:n.235-188C>T | |
| ENST00000477812.2:n.723C>T | ||
| ENST00000484841.6:n.558+112C>T | ||
| ENST00000493945.6:c.364-188C>T | ENSP00000494269.1:n.364-188C>T | |
| ENST00000642480.2:c.364-188C>T | ENSP00000495995.2:n.364-188C>T | |
| ENST00000645576.1:c.364-236C>T | ENSP00000496101.1:n.364-236C>T | |
| ENST00000646664.1:c.364-188C>T MANE Select | ENSP00000494750.1:n.364-188C>T | |
| ENST00000647275.1:c.-3-188C>T | ENSP00000494185.1:n.-3-188C>T | |
| ENST00000674681.1:c.364-188C>T | ENSP00000502821.1:n.364-188C>T | |
| ENST00000675515.1:c.364-188C>T | ENSP00000501862.1:n.364-188C>T | |
| ENST00000676189.1:c.375-200C>T | ENSP00000502538.1:n.375-200C>T | |
| ENST00000676319.1:c.87+664C>T | ENSP00000502193.1:n.87+664C>T | |
| ENST00000676397.1:c.364-188C>T | ENSP00000502286.1:n.364-188C>T | |
| ENST00000331789.9:c.364-188C>T | ENSP00000349960.4:n.364-188C>T | |
| ENST00000425660.5:c.*26+112C>T | ENSP00000409264.1:n.*26+112C>T | |
| ENST00000432588.5:c.364-188C>T | ENSP00000407473.1:n.364-188C>T | |
| ENST00000462494.5:n.701C>T | ||
| ENST00000473257.1:n.82-188C>T | ||
| ENST00000477812.1:n.571-188C>T | ||
| ENST00000484841.5:n.519-188C>T | ||
| ENST00000493945.5:n.370-188C>T | ||
| NM_001101.3:c.364-188C>T , LRG_132t1:c.364-188C>T | NP_001092.1:n.364-188C>T | |
| XM_006715764.1:c.-191C>T | XP_006715827.1:n.-191C>T | |
| NM_001101.4:c.364-188C>T | NP_001092.1:n.364-188C>T | |
| NM_001101.5:c.364-188C>T MANE Select | NP_001092.1:n.364-188C>T |