Linked Data
ClinVar Variation Id:
2138153
ClinVar RCV Id:
RCV003064516
dbSNP Id:
rs1245102198
gnomAD v2:
3-167507177-T-C
gnomAD v3:
3-167789389-T-C
gnomAD v4:
3-167789389-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.167789389T>C , CM000665.2:g.167789389T>C | GRCh38 |
| NC_000003.11:g.167507177T>C , CM000665.1:g.167507177T>C | GRCh37 |
| NC_000003.10:g.168989871T>C | NCBI36 |
| NG_008217.1:g.58746T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446050.7:c.250+11T>C MANE Select | ENSP00000397373.2:n.250+11T>C | |
| ENST00000295777.9:c.250+11T>C | ENSP00000295777.5:n.250+11T>C | |
| ENST00000446050.6:c.250+11T>C | ENSP00000397373.2:n.250+11T>C | |
| ENST00000472747.2:c.250+11T>C | ENSP00000420561.2:n.250+11T>C | |
| ENST00000472941.5:c.250+11T>C | ENSP00000420133.1:n.250+11T>C | |
| NM_001122752.1:c.250+11T>C | NP_001116224.1:n.250+11T>C | |
| NM_005025.4:c.250+11T>C | NP_005016.1:n.250+11T>C | |
| XM_017006618.2:c.250+11T>C | XP_016862107.1:n.250+11T>C | |
| NM_001122752.2:c.250+11T>C MANE Select | NP_001116224.1:n.250+11T>C | |
| NM_005025.5:c.250+11T>C | NP_005016.1:n.250+11T>C |