Linked Data
ClinVar Variation Id:
1290148
ClinVar RCV Id:
RCV001715018
dbSNP Id:
rs60102585
gnomAD v2:
3-3072327-C-T
gnomAD v3:
3-3030643-C-T
gnomAD v4:
3-3030643-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.3030643C>T , CM000665.2:g.3030643C>T | GRCh38 |
| NC_000003.11:g.3072327C>T , CM000665.1:g.3072327C>T | GRCh37 |
| NC_000003.10:g.3047327C>T | NCBI36 |
| NG_012827.1:g.935081C>T | |
| NG_012827.2:g.935081C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418658.6:c.1663-212C>T MANE Select | ENSP00000396010.1:n.1663-212C>T | |
| ENST00000397459.6:c.679-212C>T | ENSP00000380600.2:n.679-212C>T | |
| ENST00000397461.5:c.1663-212C>T | ENSP00000380602.1:n.1663-212C>T | |
| ENST00000418658.5:c.1663-212C>T | ENSP00000396010.1:n.1663-212C>T | |
| ENST00000427331.5:c.1663-212C>T | ENSP00000413642.1:n.1663-212C>T | |
| ENST00000427741.5:c.*861-215C>T | ENSP00000396719.1:n.*861-215C>T | |
| ENST00000430505.6:n.1860-212C>T | ||
| NM_001206955.1:c.1663-212C>T | NP_001193884.1:n.1663-212C>T | |
| NM_001206956.1:c.679-215C>T | NP_001193885.1:n.679-215C>T | |
| NM_175607.2:c.1663-212C>T | NP_783200.1:n.1663-212C>T | |
| NM_175613.2:c.679-212C>T | NP_783302.1:n.679-212C>T | |
| XM_006713004.2:c.1663-215C>T | XP_006713067.1:n.1663-215C>T | |
| XM_011533425.1:c.1663-212C>T | XP_011531727.1:n.1663-212C>T | |
| XM_011533426.1:c.1663-212C>T | XP_011531728.1:n.1663-212C>T | |
| XM_011533427.1:c.1663-212C>T | XP_011531729.1:n.1663-212C>T | |
| XM_011533428.1:c.1663-212C>T | XP_011531730.1:n.1663-212C>T | |
| XM_011533429.1:c.1663-212C>T | XP_011531731.1:n.1663-212C>T | |
| XM_011533430.1:c.1663-212C>T | XP_011531732.1:n.1663-212C>T | |
| XM_011533431.1:c.1630-212C>T | XP_011531733.1:n.1630-212C>T | |
| NM_001350095.1:c.1663-212C>T | NP_001337024.1:n.1663-212C>T | |
| XM_006713004.4:c.1663-215C>T | XP_006713067.1:n.1663-215C>T | |
| XM_011533425.3:c.1663-212C>T | XP_011531727.1:n.1663-212C>T | |
| XM_011533427.2:c.1663-212C>T | XP_011531729.1:n.1663-212C>T | |
| XM_011533428.2:c.1663-212C>T | XP_011531730.1:n.1663-212C>T | |
| XM_011533429.2:c.1663-212C>T | XP_011531731.1:n.1663-212C>T | |
| XM_011533430.2:c.1663-212C>T | XP_011531732.1:n.1663-212C>T | |
| XM_011533431.2:c.1630-212C>T | XP_011531733.1:n.1630-212C>T | |
| XM_017005782.1:c.1663-212C>T | XP_016861271.1:n.1663-212C>T | |
| XM_017005783.1:c.1663-212C>T | XP_016861272.1:n.1663-212C>T | |
| XM_017005784.2:c.1663-212C>T | XP_016861273.1:n.1663-212C>T | |
| XM_017005785.1:c.1663-215C>T | XP_016861274.1:n.1663-215C>T | |
| XM_017005786.1:c.1663-215C>T | XP_016861275.1:n.1663-215C>T | |
| XM_017005787.1:c.1663-215C>T | XP_016861276.1:n.1663-215C>T | |
| NM_175607.3:c.1663-212C>T MANE Select | NP_783200.1:n.1663-212C>T | |
| NM_001206955.2:c.1663-212C>T | NP_001193884.1:n.1663-212C>T | |
| NM_001206956.2:c.679-215C>T | NP_001193885.1:n.679-215C>T | |
| NM_001350095.2:c.1663-212C>T | NP_001337024.1:n.1663-212C>T | |
| NM_175613.3:c.679-212C>T | NP_783302.1:n.679-212C>T |