Linked Data
ClinVar Variation Id:
126593
ClinVar RCV Id:
RCV000114464
RCV000116063
RCV000590674
RCV000515208
RCV001358373
RCV001797625
RCV001798292
dbSNP Id:
rs45619737
ExAC:
16:23652468 G / A
gnomAD v2:
16-23652468-G-A
gnomAD v3:
16-23641147-G-A
gnomAD v4:
16-23641147-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23641147G>A , CM000678.2:g.23641147G>A | GRCh38 |
| NC_000016.9:g.23652468G>A , CM000678.1:g.23652468G>A | GRCh37 |
| NC_000016.8:g.23559969G>A | NCBI36 |
| NG_007406.1:g.5211C>T , LRG_308:g.5211C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.-842C>T | ENSP00000460666.3:n.-842C>T | |
| ENST00000565038.2:c.11C>T | ENSP00000459882.2:p.Pro4Leu | |
| ENST00000566069.6:c.11C>T | ENSP00000459237.2:p.Pro4Leu | |
| ENST00000697377.2:c.-229C>T | ENSP00000513286.2:n.-229C>T | |
| ENST00000697379.2:c.-135C>T | ENSP00000513287.2:n.-135C>T | |
| ENST00000561514.2:c.-1733C>T | ENSP00000460666.2:n.-1733C>T | |
| ENST00000697374.1:c.-1324C>T | ENSP00000513284.1:n.-1324C>T | |
| ENST00000697376.1:c.-1045C>T | ENSP00000513285.1:n.-1045C>T | |
| ENST00000697377.1:c.-1120C>T | ENSP00000513286.1:n.-1120C>T | |
| ENST00000697379.1:c.-1026C>T | ENSP00000513287.1:n.-1026C>T | |
| ENST00000697382.1:c.-1784C>T | ENSP00000513288.1:n.-1784C>T | |
| ENST00000697383.1:c.11C>T | ENSP00000513289.1:p.Pro4Leu | |
| ENST00000697384.1:n.165C>T | ||
| ENST00000261584.9:c.11C>T MANE Select | ENSP00000261584.4:p.Pro4Leu | |
| ENST00000261584.8:c.11C>T | ENSP00000261584.4:p.Pro4Leu | |
| ENST00000567003.1:n.155C>T | ||
| ENST00000568219.5:c.-858C>T | ENSP00000454703.2:n.-858C>T | |
| NM_024675.3:c.11C>T , LRG_308t1:c.11C>T | NP_078951.2:p.Pro4Leu | |
| XM_011545948.1:c.-1009C>T | XP_011544250.1:n.-1009C>T | |
| XM_011545946.2:c.-842C>T | XP_011544248.1:n.-842C>T | |
| XM_011545947.2:c.-842C>T | XP_011544249.1:n.-842C>T | |
| XM_011545948.2:c.-1009C>T | XP_011544250.1:n.-1009C>T | |
| XM_017023671.1:c.-842C>T | XP_016879160.1:n.-842C>T | |
| XM_017023672.2:c.11C>T | XP_016879161.1:p.Pro4Leu | |
| XM_017023673.2:c.11C>T | XP_016879162.1:p.Pro4Leu | |
| NM_024675.4:c.11C>T MANE Select | NP_078951.2:p.Pro4Leu |