Linked Data
ClinVar Variation Id:
365888
dbSNP Id:
rs200518324
ExAC:
9:139327630 C / T
gnomAD v2:
9-139327630-C-T
gnomAD v3:
9-136433178-C-T
gnomAD v4:
9-136433178-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136433178C>T , CM000671.2:g.136433178C>T | GRCh38 |
| NC_000009.11:g.139327630C>T , CM000671.1:g.139327630C>T | GRCh37 |
| NC_000009.10:g.138447451C>T | NCBI36 |
| NG_016126.1:g.11627G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371712.4:c.1136G>A MANE Select | ENSP00000360777.3:p.Arg379Lys | |
| ENST00000676019.1:c.1035-1G>A | ENSP00000501984.1:n.1035-1G>A | |
| ENST00000371712.3:c.1136G>A | ENSP00000360777.3:p.Arg379Lys | |
| NM_019892.4:c.1136G>A | NP_063945.2:p.Arg379Lys | |
| XM_005266094.2:c.1136G>A | XP_005266151.1:p.Arg379Lys | |
| XR_929828.1:n.1576G>A | ||
| NM_001318502.1:c.1136G>A | NP_001305431.1:p.Arg379Lys | |
| NM_019892.5:c.1136G>A | NP_063945.2:p.Arg379Lys | |
| XM_017014926.1:c.1136G>A | XP_016870415.1:p.Arg379Lys | |
| XR_929828.2:n.1578G>A | ||
| NM_019892.6:c.1136G>A MANE Select | NP_063945.2:p.Arg379Lys | |
| NM_001318502.2:c.1136G>A | NP_001305431.1:p.Arg379Lys |