Linked Data
dbSNP Id:
rs1013005860
gnomAD v2:
1-949313-G-C
gnomAD v3:
1-1013933-G-C
gnomAD v4:
1-1013933-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1013933G>C , CM000663.2:g.1013933G>C | GRCh38 |
| NC_000001.10:g.949313G>C , CM000663.1:g.949313G>C | GRCh37 |
| NC_000001.9:g.939176G>C | NCBI36 |
| NG_033033.1:g.5467G>C | |
| NG_033033.2:g.17796G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.-21-51G>C | ENSP00000485643.1:n.-21-51G>C | |
| ENST00000649529.1:c.4-51G>C MANE Select | ENSP00000496832.1:n.4-51G>C | |
| ENST00000379389.4:c.4-51G>C | ENSP00000368699.4:n.4-51G>C | |
| ENST00000624652.1:c.-21-51G>C | ENSP00000485313.1:n.-21-51G>C | |
| ENST00000624697.3:c.-21-51G>C | ENSP00000485643.1:n.-21-51G>C | |
| NM_005101.3:c.4-51G>C | NP_005092.1:n.4-51G>C | |
| NM_005101.4:c.4-51G>C MANE Select | NP_005092.1:n.4-51G>C |