Linked Data
ClinVar Variation Id:
142403
ClinVar RCV Id:
RCV000131502
RCV000236519
RCV000466579
RCV000824730
RCV001264577
RCV001781472
RCV003162588
RCV003492624
dbSNP Id:
rs180177110
ExAC:
16:23641218 G / A
gnomAD v2:
16-23641218-G-A
gnomAD v3:
16-23629897-G-A
gnomAD v4:
16-23629897-G-A
COSMIC:
COSM5752634
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23629897G>A , CM000678.2:g.23629897G>A | GRCh38 |
| NC_000016.9:g.23641218G>A , CM000678.1:g.23641218G>A | GRCh37 |
| NC_000016.8:g.23548719G>A | NCBI36 |
| NG_007406.1:g.16461C>T , LRG_308:g.16461C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.2263C>T | ENSP00000460666.3:p.Arg755Ter | |
| ENST00000565038.2:c.212-622C>T | ENSP00000459882.2:n.212-622C>T | |
| ENST00000566069.6:c.2257C>T | ENSP00000459237.2:p.Arg753Ter | |
| ENST00000697377.2:c.2263C>T | ENSP00000513286.2:p.Arg755Ter | |
| ENST00000697379.2:c.2263C>T | ENSP00000513287.2:p.Arg755Ter | |
| ENST00000561514.2:c.1372C>T | ENSP00000460666.2:p.Arg458Ter | |
| ENST00000697374.1:c.1372C>T | ENSP00000513284.1:p.Arg458Ter | |
| ENST00000697375.1:n.3604C>T | ||
| ENST00000697376.1:c.1372C>T | ENSP00000513285.1:p.Arg458Ter | |
| ENST00000697377.1:c.1372C>T | ENSP00000513286.1:p.Arg458Ter | |
| ENST00000697378.1:n.2777C>T | ||
| ENST00000697379.1:c.1372C>T | ENSP00000513287.1:p.Arg458Ter | |
| ENST00000697380.1:n.1185C>T | ||
| ENST00000697381.1:n.952C>T | ||
| ENST00000697382.1:c.1372C>T | ENSP00000513288.1:p.Arg458Ter | |
| ENST00000697383.1:c.49-622C>T | ENSP00000513289.1:n.49-622C>T | |
| ENST00000697384.1:n.2411C>T | ||
| ENST00000261584.9:c.2257C>T MANE Select | ENSP00000261584.4:p.Arg753Ter | |
| ENST00000261584.8:c.2257C>T | ENSP00000261584.4:p.Arg753Ter | |
| ENST00000565038.1:c.87-622C>T | ||
| ENST00000568219.5:c.1372C>T | ENSP00000454703.2:p.Arg458Ter | |
| NM_024675.3:c.2257C>T , LRG_308t1:c.2257C>T | NP_078951.2:p.Arg753Ter | |
| XM_011545946.1:c.2263C>T | XP_011544248.1:p.Arg755Ter | |
| XM_011545947.1:c.2263C>T | XP_011544249.1:p.Arg755Ter | |
| XM_011545948.1:c.1372C>T | XP_011544250.1:p.Arg458Ter | |
| XR_950851.1:n.3053C>T | ||
| XM_011545946.2:c.2263C>T | XP_011544248.1:p.Arg755Ter | |
| XM_011545947.2:c.2263C>T | XP_011544249.1:p.Arg755Ter | |
| XM_011545948.2:c.1372C>T | XP_011544250.1:p.Arg458Ter | |
| XM_017023671.1:c.2263C>T | XP_016879160.1:p.Arg755Ter | |
| XM_017023672.2:c.2257C>T | XP_016879161.1:p.Arg753Ter | |
| XM_017023673.2:c.2257C>T | XP_016879162.1:p.Arg753Ter | |
| NM_024675.4:c.2257C>T MANE Select | NP_078951.2:p.Arg753Ter |