Linked Data
ClinVar Variation Id:
360748
ClinVar RCV Id:
RCV000375146
dbSNP Id:
rs1049654
gnomAD v2:
7-80275455-A-C
gnomAD v3:
7-80646139-A-C
gnomAD v4:
7-80646139-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.80646139A>C , CM000669.2:g.80646139A>C | GRCh38 |
| NC_000007.13:g.80275455A>C , CM000669.1:g.80275455A>C | GRCh37 |
| NC_000007.12:g.80113391A>C | NCBI36 |
| NG_008192.1:g.48952A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447544.7:c.-132A>C MANE Select | ENSP00000415743.2:n.-132A>C | |
| ENST00000309881.11:c.-132A>C | ENSP00000308165.7:n.-132A>C | |
| ENST00000394788.7:c.-132A>C | ENSP00000378268.3:n.-132A>C | |
| ENST00000428497.5:c.-132A>C | ENSP00000409762.1:n.-132A>C | |
| ENST00000433696.6:c.-132A>C | ENSP00000401863.2:n.-132A>C | |
| ENST00000435819.5:c.-132A>C | ENSP00000399421.1:n.-132A>C | |
| ENST00000436384.5:c.-132A>C | ENSP00000398760.1:n.-132A>C | |
| ENST00000438020.5:c.-132A>C | ENSP00000410371.1:n.-132A>C | |
| ENST00000441109.6:n.156A>C | ||
| ENST00000447544.6:c.-132A>C | ENSP00000415743.2:n.-132A>C | |
| ENST00000480599.6:n.282A>C | ||
| ENST00000482059.6:c.-132A>C | ENSP00000433659.1:n.-132A>C | |
| ENST00000526804.5:n.379A>C | ||
| ENST00000534394.5:c.-108-10401A>C | ENSP00000431296.1:n.-108-10401A>C | |
| ENST00000538969.5:c.-132A>C | ENSP00000439543.1:n.-132A>C | |
| ENST00000544133.5:c.-132A>C | ENSP00000441956.1:n.-132A>C | |
| NM_000072.3:c.-132A>C | NP_000063.2:n.-132A>C | |
| NM_001001547.2:c.-132A>C | NP_001001547.1:n.-132A>C | |
| NM_001001548.2:c.-132A>C | NP_001001548.1:n.-132A>C | |
| NM_001289909.1:c.-132A>C | NP_001276838.1:n.-132A>C | |
| NM_001289911.1:c.-108-10401A>C | NP_001276840.1:n.-108-10401A>C | |
| NR_110501.1:n.48A>C | ||
| XM_005250713.1:c.-132A>C | XP_005250770.1:n.-132A>C | |
| XM_005250714.1:c.-132A>C | XP_005250771.1:n.-132A>C | |
| XM_005250715.3:c.-132A>C | XP_005250772.1:n.-132A>C | |
| XM_005250715.5:c.-132A>C | XP_005250772.1:n.-132A>C | |
| XM_024447002.1:c.-132A>C | XP_024302770.1:n.-132A>C | |
| XM_024447003.1:c.-132A>C | XP_024302771.1:n.-132A>C | |
| NM_001001547.3:c.-132A>C | NP_001001547.1:n.-132A>C | |
| NM_001289911.2:c.-108-10401A>C | NP_001276840.1:n.-108-10401A>C | |
| NM_001371074.1:c.-132A>C | NP_001358003.1:n.-132A>C | |
| NM_001371075.1:c.-132A>C | NP_001358004.1:n.-132A>C | |
| NM_001371077.1:c.-132A>C | NP_001358006.1:n.-132A>C | |
| NM_001371078.1:c.-132A>C | NP_001358007.1:n.-132A>C | |
| NM_001371079.1:c.-132A>C | NP_001358008.1:n.-132A>C | |
| NM_001371080.1:c.-184-14924A>C | NP_001358009.1:n.-184-14924A>C | |
| NM_001371081.1:c.-614A>C | NP_001358010.1:n.-614A>C | |
| NM_001001548.3:c.-132A>C MANE Select | NP_001001548.1:n.-132A>C |