Linked Data
ClinVar Variation Id:
126661
ClinVar RCV Id:
RCV000114537
RCV000127295
RCV000588544
RCV000580770
RCV001118200
RCV001358400
RCV003149782
dbSNP Id:
rs373321719
ExAC:
16:23640515 T / C
gnomAD v2:
16-23640515-T-C
gnomAD v3:
16-23629194-T-C
gnomAD v4:
16-23629194-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23629194T>C , CM000678.2:g.23629194T>C | GRCh38 |
| NC_000016.9:g.23640515T>C , CM000678.1:g.23640515T>C | GRCh37 |
| NC_000016.8:g.23548016T>C | NCBI36 |
| NG_007406.1:g.17164A>G , LRG_308:g.17164A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.2592+10A>G | ENSP00000460666.3:n.2592+10A>G | |
| ENST00000565038.2:c.*67+10A>G | ENSP00000459882.2:n.*67+10A>G | |
| ENST00000566069.6:c.2586+10A>G | ENSP00000459237.2:n.2586+10A>G | |
| ENST00000697377.2:c.2592+10A>G | ENSP00000513286.2:n.2592+10A>G | |
| ENST00000697379.2:c.2592+10A>G | ENSP00000513287.2:n.2592+10A>G | |
| ENST00000561514.2:c.1701+10A>G | ENSP00000460666.2:n.1701+10A>G | |
| ENST00000697374.1:c.1701+10A>G | ENSP00000513284.1:n.1701+10A>G | |
| ENST00000697375.1:n.3933+10A>G | ||
| ENST00000697376.1:c.1701+10A>G | ENSP00000513285.1:n.1701+10A>G | |
| ENST00000697377.1:c.1701+10A>G | ENSP00000513286.1:n.1701+10A>G | |
| ENST00000697378.1:n.3106+10A>G | ||
| ENST00000697379.1:c.1701+10A>G | ENSP00000513287.1:n.1701+10A>G | |
| ENST00000697380.1:n.1878+10A>G | ||
| ENST00000697381.1:n.1281+10A>G | ||
| ENST00000697382.1:c.1701+10A>G | ENSP00000513288.1:n.1701+10A>G | |
| ENST00000697383.1:c.120+10A>G | ENSP00000513289.1:n.120+10A>G | |
| ENST00000697384.1:n.2750A>G | ||
| ENST00000261584.9:c.2586+10A>G MANE Select | ENSP00000261584.4:n.2586+10A>G | |
| ENST00000261584.8:c.2586+10A>G | ENSP00000261584.4:n.2586+10A>G | |
| ENST00000565038.1:c.158+10A>G | ||
| ENST00000568219.5:c.1701+10A>G | ENSP00000454703.2:n.1701+10A>G | |
| NM_024675.3:c.2586+10A>G , LRG_308t1:c.2586+10A>G | NP_078951.2:n.2586+10A>G | |
| XM_011545946.1:c.2592+10A>G | XP_011544248.1:n.2592+10A>G | |
| XM_011545947.1:c.2592+10A>G | XP_011544249.1:n.2592+10A>G | |
| XM_011545948.1:c.1701+10A>G | XP_011544250.1:n.1701+10A>G | |
| XR_950851.1:n.3382+10A>G | ||
| XM_011545946.2:c.2592+10A>G | XP_011544248.1:n.2592+10A>G | |
| XM_011545947.2:c.2592+10A>G | XP_011544249.1:n.2592+10A>G | |
| XM_011545948.2:c.1701+10A>G | XP_011544250.1:n.1701+10A>G | |
| XM_017023671.1:c.2592+10A>G | XP_016879160.1:n.2592+10A>G | |
| XM_017023672.2:c.2586+10A>G | XP_016879161.1:n.2586+10A>G | |
| XM_017023673.2:c.2586+10A>G | XP_016879162.1:n.2586+10A>G | |
| NM_024675.4:c.2586+10A>G MANE Select | NP_078951.2:n.2586+10A>G |