Linked Data
dbSNP Id:
rs1157393232
gnomAD v2:
17-61564280-G-C
gnomAD v3:
17-63486919-G-C
gnomAD v4:
17-63486919-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63486919G>C , CM000679.2:g.63486919G>C | GRCh38 |
| NC_000017.10:g.61564280G>C , CM000679.1:g.61564280G>C | GRCh37 |
| NC_000017.9:g.58918012G>C | NCBI36 |
| NG_011648.1:g.14847G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2218-67G>C MANE Select | ENSP00000290866.4:n.2218-67G>C | |
| ENST00000290863.10:c.496-67G>C | ENSP00000290863.6:n.496-67G>C | |
| ENST00000290866.9:c.2218-67G>C | ENSP00000290866.4:n.2218-67G>C | |
| ENST00000413513.7:c.496-67G>C | ENSP00000392247.3:n.496-67G>C | |
| ENST00000428043.5:c.2218-67G>C | ENSP00000397593.2:n.2218-67G>C | |
| ENST00000577647.2:c.496-67G>C | ENSP00000464149.1:n.496-67G>C | |
| ENST00000578839.5:c.*288-67G>C | ENSP00000462110.2:n.*288-67G>C | |
| ENST00000579204.1:c.399-67G>C | ENSP00000464629.1:n.399-67G>C | |
| ENST00000579314.5:c.496-67G>C | ENSP00000462599.1:n.496-67G>C | |
| ENST00000579726.5:c.780-67G>C | ||
| ENST00000582005.5:c.*138-67G>C | ENSP00000462002.1:n.*138-67G>C | |
| ENST00000584865.5:n.97G>C | ||
| NM_000789.3:c.2218-67G>C | NP_000780.1:n.2218-67G>C | |
| NM_001178057.1:c.496-67G>C | NP_001171528.1:n.496-67G>C | |
| NM_152830.2:c.496-67G>C | NP_690043.1:n.496-67G>C | |
| XM_005257110.1:c.1669-67G>C | XP_005257167.1:n.1669-67G>C | |
| XM_006721737.2:c.556-67G>C | XP_006721800.2:n.556-67G>C | |
| XM_006721737.3:c.556-67G>C | XP_006721800.2:n.556-67G>C | |
| NM_000789.4:c.2218-67G>C MANE Select | NP_000780.1:n.2218-67G>C | |
| NM_001178057.2:c.496-67G>C | NP_001171528.1:n.496-67G>C | |
| NM_152830.3:c.496-67G>C | NP_690043.1:n.496-67G>C | |
| NM_001382700.1:c.1651-67G>C | NP_001369629.1:n.1651-67G>C | |
| NM_001382701.1:c.1366-67G>C | NP_001369630.1:n.1366-67G>C | |
| NM_001382702.1:c.148-67G>C | NP_001369631.1:n.148-67G>C | |
| NR_168483.1:n.518-67G>C |