Linked Data
ClinVar Variation Id:
399
dbSNP Id:
rs121918129
ExAC:
9:139327014 C / T
gnomAD v2:
9-139327014-C-T
gnomAD v4:
9-136432562-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136432562C>T , CM000671.2:g.136432562C>T | GRCh38 |
| NC_000009.11:g.139327014C>T , CM000671.1:g.139327014C>T | GRCh37 |
| NC_000009.10:g.138446835C>T | NCBI36 |
| NG_016126.1:g.12243G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371712.4:c.1304G>A MANE Select | ENSP00000360777.3:p.Arg435Gln | |
| ENST00000676019.1:c.1202G>A | ENSP00000501984.1:p.Arg401Gln | |
| ENST00000371712.3:c.1304G>A | ENSP00000360777.3:p.Arg435Gln | |
| NM_019892.4:c.1304G>A | NP_063945.2:p.Arg435Gln | |
| XM_005266094.2:c.1301G>A | XP_005266151.1:p.Arg434Gln | |
| XR_929828.1:n.1744G>A | ||
| NM_001318502.1:c.1301G>A | NP_001305431.1:p.Arg434Gln | |
| NM_019892.5:c.1304G>A | NP_063945.2:p.Arg435Gln | |
| XM_017014926.1:c.1304G>A | XP_016870415.1:p.Arg435Gln | |
| XR_929828.2:n.1746G>A | ||
| NM_019892.6:c.1304G>A MANE Select | NP_063945.2:p.Arg435Gln | |
| NM_001318502.2:c.1301G>A | NP_001305431.1:p.Arg434Gln |