Linked Data
dbSNP Id:
rs1336314580
gnomAD v2:
12-25362732-C-G
gnomAD v3:
12-25209798-C-G
gnomAD v4:
12-25209798-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25209798C>G , CM000674.2:g.25209798C>G | GRCh38 |
| NC_000012.11:g.25362732C>G , CM000674.1:g.25362732C>G | GRCh37 |
| NC_000012.10:g.25253999C>G | NCBI36 |
| NG_007524.1:g.46123G>C | |
| NG_007524.2:g.46206G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557334.6:c.225G>C | ENSP00000452512.1:p.Met75Ile | |
| ENST00000685328.1:c.564G>C | ENSP00000508921.1:p.Met188Ile | |
| ENST00000686877.1:c.*535G>C | ENSP00000510431.1:n.*535G>C | |
| ENST00000687356.1:c.*262G>C | ENSP00000510511.1:n.*262G>C | |
| ENST00000688228.1:n.1038G>C | ||
| ENST00000688940.1:c.564G>C | ENSP00000509238.1:p.Met188Ile | |
| ENST00000690406.1:c.367G>C | ||
| ENST00000690804.1:c.*525G>C | ENSP00000508568.1:n.*525G>C | |
| ENST00000692768.1:c.366G>C | ENSP00000510254.1:p.Met122Ile | |
| ENST00000693229.1:c.489G>C | ENSP00000509223.1:p.Met163Ile | |
| ENST00000256078.10:c.*118G>C MANE Plus Clinical | ENSP00000256078.5:n.*118G>C | |
| ENST00000311936.8:c.564G>C MANE Select | ENSP00000308495.3:p.Met188Ile | |
| ENST00000256078.8:c.*118G>C | ENSP00000256078.4:n.*118G>C | |
| ENST00000311936.7:c.564G>C | ENSP00000308495.3:p.Met188Ile | |
| ENST00000557334.5:c.225G>C | ENSP00000452512.1:p.Met75Ile | |
| NM_004985.4:c.564G>C | NP_004976.2:p.Met188Ile | |
| NM_033360.3:c.*118G>C | NP_203524.1:n.*118G>C | |
| XM_011520653.1:c.564G>C | XP_011518955.1:p.Met188Ile | |
| XM_011520653.3:c.564G>C | XP_011518955.1:p.Met188Ile | |
| NM_001369786.1:c.*118G>C | NP_001356715.1:n.*118G>C | |
| NM_001369787.1:c.564G>C | NP_001356716.1:p.Met188Ile | |
| NM_004985.5:c.564G>C MANE Select | NP_004976.2:p.Met188Ile | |
| NM_033360.4:c.*118G>C MANE Plus Clinical | NP_203524.1:n.*118G>C |