Linked Data
dbSNP Id:
rs11653716
gnomAD v2:
17-26084532-C-G
gnomAD v3:
17-27757506-C-G
gnomAD v4:
17-27757506-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27757506C>G , CM000679.2:g.27757506C>G | GRCh38 |
| NC_000017.10:g.26084532C>G , CM000679.1:g.26084532C>G | GRCh37 |
| NC_000017.9:g.23108659C>G | NCBI36 |
| NG_011470.1:g.48024G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697337.1:c.*4019-153G>C | ENSP00000513259.1:n.*4019-153G>C | |
| ENST00000697338.1:c.3203-153G>C | ENSP00000513260.1:n.3203-153G>C | |
| ENST00000697339.1:c.2317-153G>C | ENSP00000513261.1:n.2317-153G>C | |
| ENST00000697340.1:c.*2068-153G>C | ENSP00000513262.1:n.*2068-153G>C | |
| ENST00000313735.11:c.3355-153G>C MANE Select | ENSP00000327251.6:n.3355-153G>C | |
| ENST00000646938.1:c.3352-153G>C | ENSP00000494870.1:n.3352-153G>C | |
| ENST00000313735.10:c.3355-153G>C | ENSP00000327251.6:n.3355-153G>C | |
| ENST00000621962.1:c.3238-153G>C | ENSP00000482291.1:n.3238-153G>C | |
| NM_000625.4:c.3355-153G>C MANE Select | NP_000616.3:n.3355-153G>C | |
| XM_011524859.1:c.3355-153G>C | XP_011523161.1:n.3355-153G>C | |
| XM_011524860.1:c.3352-153G>C | XP_011523162.1:n.3352-153G>C | |
| XM_011524861.1:c.3283-153G>C | XP_011523163.1:n.3283-153G>C | |
| XM_011524862.1:c.2689-153G>C | XP_011523164.1:n.2689-153G>C |