Linked Data
ClinVar Variation Id:
2171369
dbSNP Id:
rs879748605
gnomAD v2:
4-88959397-T-A
gnomAD v4:
4-88038245-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88038245T>A , CM000666.2:g.88038245T>A | GRCh38 |
| NC_000004.11:g.88959397T>A , CM000666.1:g.88959397T>A | GRCh37 |
| NC_000004.10:g.89178421T>A | NCBI36 |
| NG_008604.1:g.35578T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.844-6T>A MANE Select | ENSP00000237596.2:n.844-6T>A | |
| ENST00000237596.6:c.844-6T>A | ENSP00000237596.2:n.844-6T>A | |
| ENST00000506367.1:n.291-6T>A | ||
| ENST00000506727.1:n.430-6T>A | ||
| NM_000297.3:c.844-6T>A | NP_000288.1:n.844-6T>A | |
| XM_011532028.1:c.844-6T>A | XP_011530330.1:n.844-6T>A | |
| XM_011532029.1:c.124-6T>A | XP_011530331.1:n.124-6T>A | |
| XM_011532030.1:c.4-6T>A | XP_011530332.1:n.4-6T>A | |
| XR_244632.2:n.939-6T>A | ||
| NR_156488.1:n.931-6T>A | ||
| XM_011532028.2:c.844-6T>A | XP_011530330.1:n.844-6T>A | |
| XM_011532030.2:c.4-6T>A | XP_011530332.1:n.4-6T>A | |
| NM_000297.4:c.844-6T>A MANE Select | NP_000288.1:n.844-6T>A | |
| NR_156488.2:n.943-6T>A |