Linked Data
ClinVar Variation Id:
2652872
ClinVar RCV Id:
RCV003437472
dbSNP Id:
rs165631
ExAC:
22:19951816 C / T
gnomAD v2:
22-19951816-C-T
gnomAD v3:
22-19964293-C-T
gnomAD v4:
22-19964293-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19964293C>T , CM000684.2:g.19964293C>T | GRCh38 |
| NC_000022.10:g.19951816C>T , CM000684.1:g.19951816C>T | GRCh37 |
| NC_000022.9:g.18331816C>T | NCBI36 |
| NG_011526.1:g.27554C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361682.11:c.609C>T MANE Select | ENSP00000354511.6:p.Leu203= | |
| ENST00000428707.2:c.609C>T | ENSP00000387695.2:p.Leu203= | |
| ENST00000676678.1:c.609C>T | ENSP00000503719.1:p.Leu203= | |
| ENST00000677397.1:c.459C>T | ENSP00000503422.1:p.Leu153= | |
| ENST00000677470.1:n.459C>T | ||
| ENST00000677564.1:n.392C>T | ||
| ENST00000677675.1:n.409C>T | ||
| ENST00000678240.1:n.457C>T | ||
| ENST00000678255.1:c.609C>T | ENSP00000504402.1:p.Leu203= | |
| ENST00000678769.1:c.609C>T | ENSP00000503289.1:p.Leu203= | |
| ENST00000678868.1:c.609C>T | ENSP00000503583.1:p.Leu203= | |
| ENST00000678945.1:n.477C>T | ||
| ENST00000207636.9:c.*67C>T | ENSP00000207636.5:n.*67C>T | |
| ENST00000361682.10:c.609C>T | ENSP00000354511.6:p.Leu203= | |
| ENST00000403184.5:c.609C>T | ENSP00000383966.1:p.Leu203= | |
| ENST00000403710.5:c.609C>T | ENSP00000385917.1:p.Leu203= | |
| ENST00000406520.7:c.609C>T | ENSP00000385150.3:p.Leu203= | |
| ENST00000407537.5:c.609C>T | ENSP00000384654.2:p.Leu203= | |
| ENST00000412786.5:c.609C>T | ENSP00000403958.1:p.Leu203= | |
| ENST00000428707.1:c.187C>T | ||
| ENST00000449653.5:c.459C>T | ENSP00000416778.1:p.Leu153= | |
| ENST00000493893.1:n.347C>T | ||
| NM_000754.3:c.609C>T | NP_000745.1:p.Leu203= | |
| NM_001135161.1:c.609C>T | NP_001128633.1:p.Leu203= | |
| NM_001135162.1:c.609C>T | NP_001128634.1:p.Leu203= | |
| NM_007310.2:c.459C>T | NP_009294.1:p.Leu153= | |
| XM_011529885.1:c.723C>T | XP_011528187.1:p.Leu241= | |
| XM_011529886.1:c.723C>T | XP_011528188.1:p.Leu241= | |
| XM_011529887.1:c.609C>T | XP_011528189.1:p.Leu203= | |
| XM_011529888.1:c.609C>T | XP_011528190.1:p.Leu203= | |
| XM_011529889.1:c.609C>T | XP_011528191.1:p.Leu203= | |
| XM_011529890.1:c.609C>T | XP_011528192.1:p.Leu203= | |
| XM_011529891.1:c.609C>T | XP_011528193.1:p.Leu203= | |
| NM_001362828.1:c.609C>T | NP_001349757.1:p.Leu203= | |
| XM_011529886.2:c.1020C>T | XP_011528188.2:p.Leu340= | |
| XM_017028595.1:c.609C>T | XP_016884084.1:p.Leu203= | |
| NM_000754.4:c.609C>T MANE Select | NP_000745.1:p.Leu203= | |
| NM_001135161.2:c.609C>T | NP_001128633.1:p.Leu203= | |
| NM_001135162.2:c.609C>T | NP_001128634.1:p.Leu203= | |
| NM_001362828.2:c.609C>T | NP_001349757.1:p.Leu203= | |
| NM_007310.3:c.459C>T | NP_009294.1:p.Leu153= |