Linked Data
ClinVar Variation Id:
363064
ClinVar RCV Id:
RCV000375468
dbSNP Id:
rs948433091
gnomAD v3:
8-42417679-C-A
gnomAD v4:
8-42417679-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42417679C>A , CM000670.2:g.42417679C>A | GRCh38 |
| NC_000008.10:g.42275197C>A , CM000670.1:g.42275197C>A | GRCh37 |
| NC_000008.9:g.42394354C>A | NCBI36 |
| NG_032161.1:g.127160G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000520262.6:c.*124G>T MANE Select | ENSP00000429754.1:n.*124G>T | |
| ENST00000342228.7:c.*124G>T | ENSP00000340465.3:n.*124G>T | |
| ENST00000520262.5:c.*124G>T | ENSP00000429754.1:n.*124G>T | |
| NM_001257180.1:c.*124G>T | NP_001244109.1:n.*124G>T | |
| NM_001257181.1:c.*124G>T | NP_001244110.1:n.*124G>T | |
| NM_006749.4:c.*124G>T | NP_006740.1:n.*124G>T | |
| XM_005273613.2:c.*124G>T | XP_005273670.1:n.*124G>T | |
| XM_006716390.2:c.*124G>T | XP_006716453.1:n.*124G>T | |
| XM_006716391.2:c.*124G>T | XP_006716454.1:n.*124G>T | |
| XM_005273613.4:c.*124G>T | XP_005273670.1:n.*124G>T | |
| XM_005273615.4:c.*320G>T | XP_005273672.1:n.*320G>T | |
| XM_006716390.4:c.*124G>T | XP_006716453.1:n.*124G>T | |
| XM_006716391.4:c.*124G>T | XP_006716454.1:n.*124G>T | |
| XM_017013748.1:c.*124G>T | XP_016869237.1:n.*124G>T | |
| XM_017013749.2:c.*124G>T | XP_016869238.1:n.*124G>T | |
| XM_017013750.2:c.*124G>T | XP_016869239.1:n.*124G>T | |
| XM_017013751.2:c.*124G>T | XP_016869240.1:n.*124G>T | |
| XM_017013752.2:c.*124G>T | XP_016869241.1:n.*124G>T | |
| XM_024447235.1:c.*124G>T | XP_024303003.1:n.*124G>T | |
| XM_024447236.1:c.*124G>T | XP_024303004.1:n.*124G>T | |
| XM_024447237.1:c.*124G>T | XP_024303005.1:n.*124G>T | |
| NM_001257180.2:c.*124G>T MANE Select | NP_001244109.1:n.*124G>T | |
| NM_006749.5:c.*124G>T | NP_006740.1:n.*124G>T | |
| NM_001257181.2:c.*124G>T | NP_001244110.1:n.*124G>T |