Linked Data
ClinVar Variation Id:
143221
ClinVar RCV Id:
RCV000171138
dbSNP Id:
rs527236142
gnomAD v4:
22-23289642-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23289642G>T , CM000684.2:g.23289642G>T | GRCh38 |
| NC_000022.10:g.23631829G>T , CM000684.1:g.23631829G>T | GRCh37 |
| NC_000022.9:g.21961829G>T | NCBI36 |
| NG_009244.1:g.114278G>T | |
| NG_009244.2:g.114278G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305877.13:c.2707+21G>T MANE Select | ENSP00000303507.8:n.2707+21G>T | |
| ENST00000305877.12:c.2707+21G>T | ENSP00000303507.8:n.2707+21G>T | |
| ENST00000359540.7:c.2707+21G>T | ENSP00000352535.3:n.2707+21G>T | |
| ENST00000398512.9:c.1403+21G>T | ENSP00000381524.6:n.1403+21G>T | |
| ENST00000419722.6:n.7+21G>T | ||
| ENST00000487968.5:n.1381G>T | ||
| NM_004327.3:c.2707+21G>T | NP_004318.3:n.2707+21G>T | |
| NM_021574.2:c.2707+21G>T | NP_067585.2:n.2707+21G>T | |
| XR_001755448.1:n.119+572C>A | ||
| NM_004327.4:c.2707+21G>T MANE Select | NP_004318.3:n.2707+21G>T | |
| NM_021574.3:c.2707+21G>T | NP_067585.2:n.2707+21G>T |