Linked Data
ClinVar Variation Id:
2719263
ClinVar RCV Id:
RCV003585594
dbSNP Id:
rs1019293030
gnomAD v3:
4-88007894-T-C
gnomAD v4:
4-88007894-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007894T>C , CM000666.2:g.88007894T>C | GRCh38 |
| NC_000004.11:g.88929046T>C , CM000666.1:g.88929046T>C | GRCh37 |
| NC_000004.10:g.89148070T>C | NCBI36 |
| NG_008604.1:g.5227T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.161T>C MANE Select | ENSP00000237596.2:p.Ile54Thr | |
| ENST00000237596.6:c.161T>C | ENSP00000237596.2:p.Ile54Thr | |
| NM_000297.3:c.161T>C | NP_000288.1:p.Ile54Thr | |
| XM_011532028.1:c.161T>C | XP_011530330.1:p.Ile54Thr | |
| XR_244632.2:n.256T>C | ||
| NR_156488.1:n.248T>C | ||
| XM_011532028.2:c.161T>C | XP_011530330.1:p.Ile54Thr | |
| NM_000297.4:c.161T>C MANE Select | NP_000288.1:p.Ile54Thr | |
| NR_156488.2:n.260T>C |