Linked Data
dbSNP Id:
rs1364479608
gnomAD v2:
2-71351254-T-C
gnomAD v3:
2-71124124-T-C
gnomAD v4:
2-71124124-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124124T>C , CM000664.2:g.71124124T>C | GRCh38 |
| NC_000002.11:g.71351254T>C , CM000664.1:g.71351254T>C | GRCh37 |
| NC_000002.10:g.71204762T>C | NCBI36 |
| NG_008977.1:g.11141A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.378+82A>G MANE Select | ENSP00000244217.5:n.378+82A>G | |
| ENST00000244217.5:c.378+82A>G | ENSP00000244217.5:n.378+82A>G | |
| ENST00000413592.5:c.84+244A>G | ENSP00000391140.1:n.84+244A>G | |
| NM_032601.3:c.378+82A>G | NP_115990.3:n.378+82A>G | |
| XM_005264613.2:c.216+244A>G | XP_005264670.1:n.216+244A>G | |
| XR_939729.1:n.447+82A>G | ||
| XR_939729.2:n.447+82A>G | ||
| NM_032601.4:c.378+82A>G MANE Select | NP_115990.3:n.378+82A>G |