Linked Data
ClinVar Variation Id:
2156972
ClinVar RCV Id:
RCV003077852
dbSNP Id:
rs1182663286
gnomAD v2:
16-9857359-G-A
gnomAD v3:
16-9763502-G-A
gnomAD v4:
16-9763502-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9763502G>A , CM000678.2:g.9763502G>A | GRCh38 |
| NC_000016.9:g.9857359G>A , CM000678.1:g.9857359G>A | GRCh37 |
| NC_000016.8:g.9764860G>A | NCBI36 |
| NG_011812.1:g.424253C>T | |
| NG_011812.2:g.424253C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.4042C>T MANE Select | ENSP00000332549.3:p.Leu1348= | |
| ENST00000535259.6:c.3302-74C>T | ENSP00000441572.3:n.3302-74C>T | |
| ENST00000636273.2:n.3366-74C>T | ||
| ENST00000674742.1:c.3571C>T | ENSP00000502200.1:p.Leu1191= | |
| ENST00000675398.1:c.*1412C>T | ENSP00000502752.1:n.*1412C>T | |
| ENST00000330684.3:c.4042C>T | ENSP00000332549.3:p.Leu1348= | |
| ENST00000396573.6:c.4042C>T | ENSP00000379818.2:p.Leu1348= | |
| ENST00000396575.6:c.3631C>T | ENSP00000379820.3:p.Leu1211= | |
| ENST00000461292.3:n.3412-74C>T | ||
| ENST00000535259.5:c.3362-74C>T | ENSP00000441572.2:n.3362-74C>T | |
| ENST00000562109.5:c.3773-74C>T | ENSP00000454998.1:n.3773-74C>T | |
| NM_000833.4:c.4042C>T | NP_000824.1:p.Leu1348= | |
| NM_001134407.2:c.4042C>T | NP_001127879.1:p.Leu1348= | |
| NM_001134408.2:c.3773-74C>T | NP_001127880.1:n.3773-74C>T | |
| XM_011522456.1:c.3883C>T | XP_011520758.1:p.Leu1295= | |
| XM_011522457.1:c.3784C>T | XP_011520759.1:p.Leu1262= | |
| XM_011522458.1:c.3571C>T | XP_011520760.1:p.Leu1191= | |
| XM_011522459.1:c.3571C>T | XP_011520761.1:p.Leu1191= | |
| XM_011522460.1:c.3571C>T | XP_011520762.1:p.Leu1191= | |
| XM_011522461.1:c.3773-74C>T | XP_011520763.1:n.3773-74C>T | |
| XM_011522458.3:c.3571C>T | XP_011520760.1:p.Leu1191= | |
| XM_011522461.3:c.3773-74C>T | XP_011520763.1:n.3773-74C>T | |
| XM_017023172.1:c.4198C>T | XP_016878661.1:p.Leu1400= | |
| XM_017023173.1:c.3929-74C>T | XP_016878662.1:n.3929-74C>T | |
| NM_001134407.3:c.4042C>T MANE Select | NP_001127879.1:p.Leu1348= | |
| NM_000833.5:c.4042C>T | NP_000824.1:p.Leu1348= |