Linked Data
dbSNP Id:
rs16851720
gnomAD v2:
3-141463298-A-C
gnomAD v3:
3-141744456-A-C
gnomAD v4:
3-141744456-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.141744456A>C , CM000665.2:g.141744456A>C | GRCh38 |
| NC_000003.11:g.141463298A>C , CM000665.1:g.141463298A>C | GRCh37 |
| NC_000003.10:g.142945988A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000273480.4:c.224-703A>C MANE Select | ENSP00000273480.3:n.224-703A>C | |
| ENST00000648835.1:c.43+5940A>C | ENSP00000498049.1:n.43+5940A>C | |
| ENST00000273480.3:c.224-703A>C | ENSP00000273480.3:n.224-703A>C | |
| ENST00000393000.3:c.217-703A>C | ENSP00000376725.3:n.217-703A>C | |
| ENST00000477012.5:c.*161-703A>C | ENSP00000419339.1:n.*161-703A>C | |
| ENST00000477393.1:c.*274-703A>C | ENSP00000419979.1:n.*274-703A>C | |
| ENST00000480908.1:c.176-703A>C | ENSP00000419084.1:n.176-703A>C | |
| NM_001201370.1:c.176-703A>C | NP_001188299.1:n.176-703A>C | |
| NM_014245.4:c.224-703A>C | NP_055060.1:n.224-703A>C | |
| NM_183237.2:c.217-703A>C | NP_899060.1:n.217-703A>C | |
| NR_037702.1:n.621-703A>C | ||
| NR_037703.1:n.614-703A>C | ||
| NM_014245.5:c.224-703A>C MANE Select | NP_055060.1:n.224-703A>C | |
| NM_001201370.2:c.176-703A>C | NP_001188299.1:n.176-703A>C | |
| NM_183237.3:c.217-703A>C | NP_899060.1:n.217-703A>C | |
| NR_037702.2:n.532-703A>C | ||
| NR_037703.2:n.525-703A>C |