Linked Data
ClinVar Variation Id:
1213
ClinVar RCV Id:
RCV000088686
dbSNP Id:
rs17070145
gnomAD v2:
5-167845791-C-T
gnomAD v3:
5-168418786-C-T
gnomAD v4:
5-168418786-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168418786C>T , CM000667.2:g.168418786C>T | GRCh38 |
| NC_000005.9:g.167845791C>T , CM000667.1:g.167845791C>T | GRCh37 |
| NC_000005.8:g.167778369C>T | NCBI36 |
| NG_016712.1:g.131727C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265293.9:c.1185-3222C>T MANE Select | ENSP00000265293.4:n.1185-3222C>T | |
| ENST00000265293.8:c.1185-3222C>T | ENSP00000265293.4:n.1185-3222C>T | |
| ENST00000393895.7:c.1069-3222C>T | ||
| ENST00000517425.5:n.703-3222C>T | ||
| ENST00000518334.1:n.462-3222C>T | ||
| ENST00000521089.5:c.1185-3222C>T | ENSP00000427772.1:n.1185-3222C>T | |
| ENST00000524228.5:c.514-3222C>T | ||
| NM_001161661.1:c.1185-3222C>T | NP_001155133.1:n.1185-3222C>T | |
| NM_001161662.1:c.1185-3222C>T | NP_001155134.1:n.1185-3222C>T | |
| NM_015238.2:c.1185-3222C>T | NP_056053.1:n.1185-3222C>T | |
| XM_005265850.1:c.1185-3222C>T | XP_005265907.1:n.1185-3222C>T | |
| XM_005265853.1:c.1185-3222C>T | XP_005265910.1:n.1185-3222C>T | |
| XM_011534485.1:c.1368-3222C>T | XP_011532787.1:n.1368-3222C>T | |
| XM_011534486.1:c.1368-3222C>T | XP_011532788.1:n.1368-3222C>T | |
| XM_011534487.1:c.1368-3222C>T | XP_011532789.1:n.1368-3222C>T | |
| XM_011534488.1:c.1368-3222C>T | XP_011532790.1:n.1368-3222C>T | |
| XM_011534489.1:c.1368-3222C>T | XP_011532791.1:n.1368-3222C>T | |
| XM_011534490.1:c.1368-3222C>T | XP_011532792.1:n.1368-3222C>T | |
| XM_011534491.1:c.1368-3222C>T | XP_011532793.1:n.1368-3222C>T | |
| XM_005265853.2:c.1185-3222C>T | XP_005265910.1:n.1185-3222C>T | |
| XM_017009276.1:c.1368-3222C>T | XP_016864765.1:n.1368-3222C>T | |
| XM_017009278.1:c.903-3222C>T | XP_016864767.1:n.903-3222C>T | |
| NM_001161661.2:c.1185-3222C>T | NP_001155133.1:n.1185-3222C>T | |
| NM_001161662.2:c.1185-3222C>T | NP_001155134.1:n.1185-3222C>T | |
| NM_015238.3:c.1185-3222C>T MANE Select | NP_056053.1:n.1185-3222C>T |