Linked Data
ClinVar Variation Id:
211183
dbSNP Id:
rs558778286
ExAC:
9:139327496 G / A
gnomAD v2:
9-139327496-G-A
gnomAD v3:
9-136433044-G-A
gnomAD v4:
9-136433044-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136433044G>A , CM000671.2:g.136433044G>A | GRCh38 |
| NC_000009.11:g.139327496G>A , CM000671.1:g.139327496G>A | GRCh37 |
| NC_000009.10:g.138447317G>A | NCBI36 |
| NG_016126.1:g.11761C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371712.4:c.1191C>T MANE Select | ENSP00000360777.3:p.Ile397= | |
| ENST00000676019.1:c.1089C>T | ENSP00000501984.1:p.Ile363= | |
| ENST00000371712.3:c.1191C>T | ENSP00000360777.3:p.Ile397= | |
| NM_019892.4:c.1191C>T | NP_063945.2:p.Ile397= | |
| XM_005266094.2:c.1191C>T | XP_005266151.1:p.Ile397= | |
| XR_929828.1:n.1631C>T | ||
| NM_001318502.1:c.1191C>T | NP_001305431.1:p.Ile397= | |
| NM_019892.5:c.1191C>T | NP_063945.2:p.Ile397= | |
| XM_017014926.1:c.1191C>T | XP_016870415.1:p.Ile397= | |
| XR_929828.2:n.1633C>T | ||
| NM_019892.6:c.1191C>T MANE Select | NP_063945.2:p.Ile397= | |
| NM_001318502.2:c.1191C>T | NP_001305431.1:p.Ile397= |