Linked Data
dbSNP Id:
rs11208305
gnomAD v2:
1-64315479-G-C
gnomAD v3:
1-63849808-G-C
gnomAD v4:
1-63849808-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63849808G>C , CM000663.2:g.63849808G>C | GRCh38 |
| NC_000001.10:g.64315479G>C , CM000663.1:g.64315479G>C | GRCh37 |
| NC_000001.9:g.64088067G>C | NCBI36 |
| NG_032801.1:g.80790G>C | |
| NG_032801.2:g.80790G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371079.6:c.91+75300G>C MANE Select | ENSP00000360120.1:n.91+75300G>C | |
| ENST00000371079.5:c.91+75300G>C | ENSP00000360120.1:n.91+75300G>C | |
| ENST00000371080.5:c.91+75300G>C | ENSP00000360121.1:n.91+75300G>C | |
| ENST00000482426.1:n.125+74394G>C | ||
| NM_001083592.1:c.91+75300G>C | NP_001077061.1:n.91+75300G>C | |
| NM_005012.3:c.91+75300G>C | NP_005003.2:n.91+75300G>C | |
| NM_005012.4:c.91+75300G>C MANE Select | NP_005003.2:n.91+75300G>C | |
| NM_001083592.2:c.91+75300G>C | NP_001077061.1:n.91+75300G>C |