Linked Data
ClinVar Variation Id:
136123
ClinVar RCV Id:
RCV000123325
RCV000263104
RCV000302880
RCV000355396
RCV000409807
RCV000412200
RCV000568383
RCV000391410
RCV001081768
dbSNP Id:
rs576806329
ExAC:
10:43600467 C / T
gnomAD v2:
10-43600467-C-T
gnomAD v3:
10-43105019-C-T
gnomAD v4:
10-43105019-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43105019C>T , CM000672.2:g.43105019C>T | GRCh38 |
| NC_000010.10:g.43600467C>T , CM000672.1:g.43600467C>T | GRCh37 |
| NC_000010.9:g.42920473C>T | NCBI36 |
| NG_007489.1:g.32951C>T , LRG_518:g.32951C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.693C>T | ENSP00000480088.2:p.Arg231= | |
| ENST00000683007.1:n.267C>T | ||
| ENST00000340058.6:c.693C>T | ENSP00000344798.4:p.Arg231= | |
| ENST00000355710.8:c.693C>T MANE Select | ENSP00000347942.3:p.Arg231= | |
| ENST00000671844.1:c.625+2390C>T | ENSP00000500541.1:n.625+2390C>T | |
| ENST00000672389.1:c.74-6188C>T | ENSP00000500252.1:n.74-6188C>T | |
| ENST00000340058.5:c.693C>T | ENSP00000344798.4:p.Arg231= | |
| ENST00000355710.7:c.693C>T | ENSP00000347942.3:p.Arg231= | |
| ENST00000479913.1:n.288C>T | ||
| ENST00000498820.5:c.74-7080C>T | ENSP00000419080.1:n.74-7080C>T | |
| ENST00000615310.4:c.693C>T | ENSP00000480088.1:p.Arg231= | |
| NM_020630.4:c.693C>T , LRG_518t2:c.693C>T | NP_065681.1:p.Arg231= | |
| NM_020975.4:c.693C>T , LRG_518t1:c.693C>T | NP_066124.1:p.Arg231= | |
| XM_011540027.1:c.693C>T | XP_011538329.1:p.Arg231= | |
| NM_001355216.1:c.-70C>T | NP_001342145.1:n.-70C>T | |
| NM_020630.5:c.693C>T | NP_065681.1:p.Arg231= | |
| NM_020975.5:c.693C>T | NP_066124.1:p.Arg231= | |
| NM_020975.6:c.693C>T MANE Select | NP_066124.1:p.Arg231= | |
| NM_020630.6:c.693C>T | NP_065681.1:p.Arg231= |