Linked Data
ClinVar Variation Id:
770
ClinVar RCV Id:
RCV000000806
dbSNP Id:
rs137854435
gnomAD v4:
8-143728488-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143728488G>A , CM000670.2:g.143728488G>A | GRCh38 |
| NC_000008.10:g.144810658G>A , CM000670.1:g.144810658G>A | GRCh37 |
| NC_000008.9:g.144882646G>A | NCBI36 |
| NG_016652.1:g.10257C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388913.4:c.973C>T MANE Select | ENSP00000373565.3:p.Arg325Ter | |
| ENST00000650760.1:c.1576C>T | ENSP00000499217.1:p.Arg526Ter | |
| ENST00000388913.3:c.973C>T | ENSP00000373565.3:p.Arg325Ter | |
| ENST00000395103.2:c.153C>T | ||
| NM_198488.3:c.973C>T | NP_940890.3:p.Arg325Ter | |
| XM_005250887.2:c.1030C>T | XP_005250944.1:p.Arg344Ter | |
| XM_005250888.2:c.991C>T | XP_005250945.1:p.Arg331Ter | |
| XM_005250889.2:c.973C>T | XP_005250946.1:p.Arg325Ter | |
| XM_011516980.1:c.1294C>T | XP_011515282.1:p.Arg432Ter | |
| XM_011516981.1:c.1141C>T | XP_011515283.1:p.Arg381Ter | |
| XM_005250887.3:c.1030C>T | XP_005250944.1:p.Arg344Ter | |
| XM_005250888.3:c.991C>T | XP_005250945.1:p.Arg331Ter | |
| XM_005250889.3:c.973C>T | XP_005250946.1:p.Arg325Ter | |
| XM_011516980.2:c.1576C>T | XP_011515282.2:p.Arg526Ter | |
| XM_011516981.2:c.1141C>T | XP_011515283.1:p.Arg381Ter | |
| XM_024447131.1:c.973C>T | XP_024302899.1:p.Arg325Ter | |
| NM_198488.4:c.973C>T | NP_940890.3:p.Arg325Ter | |
| NM_198488.5:c.973C>T MANE Select | NP_940890.4:p.Arg325Ter |