Linked Data
ClinVar Variation Id:
1523687
ClinVar RCV Id:
RCV002039067
dbSNP Id:
rs761506496
ExAC:
10:69961661 G / C
gnomAD v2:
10-69961661-G-C
gnomAD v4:
10-68201904-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68201904G>C , CM000672.2:g.68201904G>C | GRCh38 |
| NC_000010.10:g.69961661G>C , CM000672.1:g.69961661G>C | GRCh37 |
| NC_000010.9:g.69631667G>C | NCBI36 |
| NG_032118.1:g.100788G>C , LRG_410:g.100788G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2744G>C | ENSP00000346369.2:p.Arg915Thr | |
| ENST00000540630.6:c.3623G>C | ENSP00000441668.3:p.Arg1208Thr | |
| ENST00000613327.5:c.3569G>C | ENSP00000480757.2:p.Arg1190Thr | |
| ENST00000688812.1:c.*832G>C | ENSP00000510658.1:n.*832G>C | |
| ENST00000690544.1:c.*2840G>C | ENSP00000508989.1:n.*2840G>C | |
| ENST00000358913.10:c.3569G>C MANE Select | ENSP00000351790.5:p.Arg1190Thr | |
| ENST00000354393.6:c.2744G>C | ENSP00000346369.2:p.Arg915Thr | |
| ENST00000358913.9:c.3569G>C | ENSP00000351790.5:p.Arg1190Thr | |
| ENST00000540630.5:c.3569G>C | ENSP00000441668.2:p.Arg1190Thr | |
| ENST00000613327.4:c.2687G>C | ENSP00000480757.1:p.Arg896Thr | |
| NM_001256267.1:c.3569G>C | NP_001243196.1:p.Arg1190Thr | |
| NM_001256268.1:c.2687G>C | NP_001243197.1:p.Arg896Thr | |
| NM_032578.3:c.3569G>C , LRG_410t1:c.3569G>C | NP_115967.2:p.Arg1190Thr | |
| NR_045662.3:n.2996G>C | ||
| NR_045663.3:n.3698G>C | ||
| XM_006718043.2:c.3623G>C | XP_006718106.1:p.Arg1208Thr | |
| XM_011540292.1:c.3599G>C | XP_011538594.1:p.Arg1200Thr | |
| XR_946029.1:n.1803+2127C>G | ||
| XM_017016833.1:c.3647G>C | XP_016872322.1:p.Arg1216Thr | |
| XM_017016834.2:c.3569G>C | XP_016872323.1:p.Arg1190Thr | |
| XM_024448236.1:c.2447G>C | XP_024304004.1:p.Arg816Thr | |
| NR_045662.4:n.3106G>C | ||
| NR_045663.4:n.3643G>C | ||
| NM_001256267.2:c.3569G>C | NP_001243196.1:p.Arg1190Thr | |
| NM_001256268.2:c.2687G>C | NP_001243197.1:p.Arg896Thr | |
| NM_032578.4:c.3569G>C MANE Select | NP_115967.2:p.Arg1190Thr |