Linked Data
dbSNP Id:
rs1557969692
gnomAD v4:
1-114677991-A-C
MyVariant Identifiers:
chr1:g.115220612A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677991A>C , CM000663.2:g.114677991A>C | GRCh38 |
| NC_000001.10:g.115220612A>C , CM000663.1:g.115220612A>C | GRCh37 |
| NC_000001.9:g.115022135A>C | NCBI36 |
| NG_008012.1:g.22565T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.1131T>G | ENSP00000358551.4:p.Pro377= | |
| ENST00000520113.7:c.1143T>G MANE Select | ENSP00000430075.3:p.Pro381= | |
| ENST00000637080.1:c.926T>G | ENSP00000489753.1:n.926T>G | |
| ENST00000639077.1:n.808T>G | ||
| ENST00000369538.3:c.1230T>G | ENSP00000358551.3:p.Pro410= | |
| ENST00000520113.6:c.1242T>G | ENSP00000430075.2:p.Pro414= | |
| NM_000036.2:c.1242T>G | NP_000027.2:p.Pro414= | |
| NM_001172626.1:c.1230T>G | NP_001166097.1:p.Pro410= | |
| NM_000036.3:c.1143T>G MANE Select | NP_000027.3:p.Pro381= | |
| NM_001172626.2:c.1131T>G | NP_001166097.2:p.Pro377= |