Linked Data
dbSNP Id:
rs1030646604
gnomAD v4:
8-143728513-C-G
MyVariant Identifiers:
chr8:g.144810683C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143728513C>G , CM000670.2:g.143728513C>G | GRCh38 |
| NC_000008.10:g.144810683C>G , CM000670.1:g.144810683C>G | GRCh37 |
| NC_000008.9:g.144882671C>G | NCBI36 |
| NG_016652.1:g.10232G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388913.4:c.948G>C MANE Select | ENSP00000373565.3:p.Ala316= | |
| ENST00000650760.1:c.1551G>C | ENSP00000499217.1:p.Ala517= | |
| ENST00000388913.3:c.948G>C | ENSP00000373565.3:p.Ala316= | |
| ENST00000395103.2:c.128G>C | ||
| NM_198488.3:c.948G>C | NP_940890.3:p.Ala316= | |
| XM_005250887.2:c.1005G>C | XP_005250944.1:p.Ala335= | |
| XM_005250888.2:c.966G>C | XP_005250945.1:p.Ala322= | |
| XM_005250889.2:c.948G>C | XP_005250946.1:p.Ala316= | |
| XM_011516980.1:c.1269G>C | XP_011515282.1:p.Ala423= | |
| XM_011516981.1:c.1116G>C | XP_011515283.1:p.Ala372= | |
| XM_005250887.3:c.1005G>C | XP_005250944.1:p.Ala335= | |
| XM_005250888.3:c.966G>C | XP_005250945.1:p.Ala322= | |
| XM_005250889.3:c.948G>C | XP_005250946.1:p.Ala316= | |
| XM_011516980.2:c.1551G>C | XP_011515282.2:p.Ala517= | |
| XM_011516981.2:c.1116G>C | XP_011515283.1:p.Ala372= | |
| XM_024447131.1:c.948G>C | XP_024302899.1:p.Ala316= | |
| NM_198488.4:c.948G>C | NP_940890.3:p.Ala316= | |
| NM_198488.5:c.948G>C MANE Select | NP_940890.4:p.Ala316= |