Linked Data
ClinVar Variation Id:
375491
ClinVar RCV Id:
RCV000417004
dbSNP Id:
rs1057519515
PubMed:
PMID:27939639
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9739564T>C , CM000665.2:g.9739564T>C | GRCh38 |
| NC_000003.11:g.9781248T>C , CM000665.1:g.9781248T>C | GRCh37 |
| NC_000003.10:g.9756248T>C | NCBI36 |
| NG_052955.1:g.12836T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420291.3:c.1165T>C | ENSP00000416728.3:p.Cys389Arg | |
| ENST00000424362.7:c.1165T>C | ENSP00000398863.2:p.Cys389Arg | |
| ENST00000426583.2:c.1165T>C | ENSP00000404235.2:p.Cys389Arg | |
| ENST00000457855.2:c.1165T>C | ENSP00000410210.2:p.Cys389Arg | |
| ENST00000672126.2:c.1165T>C | ENSP00000500718.1:p.Cys389Arg | |
| ENST00000672515.2:c.1165T>C | ENSP00000499951.2:p.Cys389Arg | |
| ENST00000673551.2:c.1165T>C | ENSP00000500672.1:p.Cys389Arg | |
| ENST00000682208.1:c.1165T>C | ENSP00000508123.1:p.Cys389Arg | |
| ENST00000682980.1:c.1165T>C | ENSP00000508198.1:p.Cys389Arg | |
| ENST00000683423.1:c.1165T>C | ENSP00000507659.1:p.Cys389Arg | |
| ENST00000683639.1:c.1165T>C | ENSP00000506903.1:p.Cys389Arg | |
| ENST00000683743.1:c.1165T>C | ENSP00000507469.1:p.Cys389Arg | |
| ENST00000684199.1:c.1165T>C | ENSP00000506921.1:p.Cys389Arg | |
| ENST00000684206.1:c.1165T>C | ENSP00000507148.1:p.Cys389Arg | |
| ENST00000684223.1:c.1165T>C | ENSP00000506789.1:p.Cys389Arg | |
| ENST00000684333.1:c.1165T>C | ENSP00000508256.1:p.Cys389Arg | |
| ENST00000684608.1:c.1165T>C | ENSP00000507969.1:p.Cys389Arg | |
| ENST00000383829.7:c.1165T>C MANE Select | ENSP00000373340.2:p.Cys389Arg | |
| ENST00000424362.6:c.1165T>C | ENSP00000398863.1:p.Cys389Arg | |
| ENST00000672126.1:c.1165T>C | ENSP00000500718.1:p.Cys389Arg | |
| ENST00000672515.1:c.1157T>C | ||
| ENST00000673551.1:c.1165T>C | ENSP00000500672.1:p.Cys389Arg | |
| ENST00000383829.6:c.1165T>C | ENSP00000373340.2:p.Cys389Arg | |
| ENST00000424362.5:c.1165T>C | ENSP00000398863.1:p.Cys389Arg | |
| ENST00000433861.6:c.1165T>C | ENSP00000402485.2:p.Cys389Arg | |
| ENST00000457855.1:c.1165T>C | ENSP00000410210.1:p.Cys389Arg | |
| NM_001003694.1:c.1165T>C | NP_001003694.1:p.Cys389Arg | |
| NM_004634.2:c.1165T>C | NP_004625.2:p.Cys389Arg | |
| XM_005265449.1:c.1165T>C | XP_005265506.1:p.Cys389Arg | |
| XM_005265450.1:c.1165T>C | XP_005265507.1:p.Cys389Arg | |
| XM_005265451.1:c.1165T>C | XP_005265508.1:p.Cys389Arg | |
| XM_005265452.1:c.1165T>C | XP_005265509.1:p.Cys389Arg | |
| XM_005265453.1:c.1165T>C | XP_005265510.1:p.Cys389Arg | |
| XM_005265454.1:c.1165T>C | XP_005265511.1:p.Cys389Arg | |
| XM_011534101.1:c.1165T>C | XP_011532403.1:p.Cys389Arg | |
| XM_011534102.1:c.1165T>C | XP_011532404.1:p.Cys389Arg | |
| NM_001319049.1:c.1165T>C | NP_001305978.1:p.Cys389Arg | |
| NM_001319050.1:c.1165T>C | NP_001305979.1:p.Cys389Arg | |
| XM_024453741.1:c.1165T>C | XP_024309509.1:p.Cys389Arg | |
| XM_024453742.1:c.1165T>C | XP_024309510.1:p.Cys389Arg | |
| XM_024453743.1:c.1165T>C | XP_024309511.1:p.Cys389Arg | |
| XM_024453744.1:c.1165T>C | XP_024309512.1:p.Cys389Arg | |
| XR_001740257.1:n.1585T>C | ||
| XR_001740258.1:n.1585T>C | ||
| NM_001003694.2:c.1165T>C MANE Select | NP_001003694.1:p.Cys389Arg | |
| NR_160918.1:n.1579T>C | ||
| NM_001319049.2:c.1165T>C | NP_001305978.1:p.Cys389Arg | |
| NM_001319050.2:c.1165T>C | NP_001305979.1:p.Cys389Arg | |
| NM_004634.3:c.1165T>C | NP_004625.2:p.Cys389Arg |