Linked Data
ClinVar Variation Id:
362249
dbSNP Id:
rs200693339
ExAC:
8:145640349 G / A
gnomAD v2:
8-145640349-G-A
gnomAD v3:
8-144414965-G-A
gnomAD v4:
8-144414965-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144414965G>A , CM000670.2:g.144414965G>A | GRCh38 |
| NC_000008.10:g.145640349G>A , CM000670.1:g.145640349G>A | GRCh37 |
| NC_000008.9:g.145611157G>A | NCBI36 |
| NG_012234.2:g.6926C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.804+9C>T MANE Select | ENSP00000301305.4:n.804+9C>T | |
| ENST00000276833.9:c.729+9C>T | ENSP00000276833.5:n.729+9C>T | |
| ENST00000301305.7:c.804+9C>T | ENSP00000301305.3:n.804+9C>T | |
| ENST00000526658.1:c.522+9C>T | ENSP00000434512.1:n.522+9C>T | |
| NM_017767.2:c.729+9C>T | NP_060237.2:n.729+9C>T | |
| NM_130849.3:c.804+9C>T | NP_570901.2:n.804+9C>T | |
| XM_006716599.1:c.804+9C>T | XP_006716662.1:n.804+9C>T | |
| XM_011517153.1:c.522+9C>T | XP_011515455.1:n.522+9C>T | |
| XM_024447188.1:c.522+9C>T | XP_024302956.1:n.522+9C>T | |
| XM_024447189.1:c.522+9C>T | XP_024302957.1:n.522+9C>T | |
| NM_001374839.1:c.522+9C>T | NP_001361768.1:n.522+9C>T | |
| NM_017767.3:c.729+9C>T | NP_060237.3:n.729+9C>T | |
| NM_130849.4:c.804+9C>T MANE Select | NP_570901.3:n.804+9C>T |