Linked Data
ClinVar Variation Id:
12586
ClinVar RCV Id:
RCV000013416
RCV000157935
RCV000254661
RCV000521390
RCV000844635
RCV001267316
RCV003313917
dbSNP Id:
rs104894359
ERepo:
CA273416/MONDO:0015280/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25227346C>G , CM000674.2:g.25227346C>G | GRCh38 |
| NC_000012.11:g.25380280C>G , CM000674.1:g.25380280C>G | GRCh37 |
| NC_000012.10:g.25271547C>G | NCBI36 |
| NG_007524.1:g.28575G>C | |
| NG_007524.2:g.28658G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557334.6:c.112-17435G>C | ENSP00000452512.1:n.112-17435G>C | |
| ENST00000685328.1:c.178G>C | ENSP00000508921.1:p.Gly60Arg | |
| ENST00000686877.1:c.*149G>C | ENSP00000510431.1:n.*149G>C | |
| ENST00000687356.1:c.112-1573G>C | ENSP00000510511.1:n.112-1573G>C | |
| ENST00000688228.1:n.652G>C | ||
| ENST00000688940.1:c.178G>C | ENSP00000509238.1:p.Gly60Arg | |
| ENST00000690804.1:c.*139G>C | ENSP00000508568.1:n.*139G>C | |
| ENST00000692768.1:c.-21G>C | ENSP00000510254.1:n.-21G>C | |
| ENST00000693229.1:c.112-9G>C | ENSP00000509223.1:n.112-9G>C | |
| ENST00000256078.10:c.178G>C MANE Plus Clinical | ENSP00000256078.5:p.Gly60Arg | |
| ENST00000311936.8:c.178G>C MANE Select | ENSP00000308495.3:p.Gly60Arg | |
| ENST00000256078.8:c.178G>C | ENSP00000256078.4:p.Gly60Arg | |
| ENST00000311936.7:c.178G>C | ENSP00000308495.3:p.Gly60Arg | |
| ENST00000557334.5:c.112-17435G>C | ENSP00000452512.1:n.112-17435G>C | |
| NM_004985.4:c.178G>C | NP_004976.2:p.Gly60Arg | |
| NM_033360.3:c.178G>C | NP_203524.1:p.Gly60Arg | |
| XM_006719069.2:c.178G>C | XP_006719132.1:p.Gly60Arg | |
| XM_011520653.1:c.178G>C | XP_011518955.1:p.Gly60Arg | |
| XM_006719069.4:c.178G>C | XP_006719132.1:p.Gly60Arg | |
| XM_011520653.3:c.178G>C | XP_011518955.1:p.Gly60Arg | |
| NM_001369786.1:c.178G>C | NP_001356715.1:p.Gly60Arg | |
| NM_001369787.1:c.178G>C | NP_001356716.1:p.Gly60Arg | |
| NM_004985.5:c.178G>C MANE Select | NP_004976.2:p.Gly60Arg | |
| NM_033360.4:c.178G>C MANE Plus Clinical | NP_203524.1:p.Gly60Arg |