Linked Data
ClinVar Variation Id:
296952
ClinVar RCV Id:
RCV000286815
RCV000345238
RCV000892571
RCV000402598
RCV001597041
RCV002262945
RCV004543173
dbSNP Id:
rs147154764
ExAC:
1:247597507 C / T
gnomAD v2:
1-247597507-C-T
gnomAD v3:
1-247434205-C-T
gnomAD v4:
1-247434205-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247434205C>T , CM000663.2:g.247434205C>T | GRCh38 |
| NC_000001.10:g.247597507C>T , CM000663.1:g.247597507C>T | GRCh37 |
| NC_000001.9:g.245664130C>T | NCBI36 |
| NG_007509.2:g.23033C>T , LRG_197:g.23033C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697350.1:c.2424C>T | ENSP00000513275.1:p.Leu808= | |
| ENST00000336119.8:c.2424C>T MANE Select | ENSP00000337383.4:p.Leu808= | |
| ENST00000348069.7:c.2253C>T | ENSP00000294752.4:p.Leu751= | |
| ENST00000366496.7:c.2424C>T | ENSP00000355452.3:p.Leu808= | |
| ENST00000391827.3:c.2253C>T | ENSP00000375703.3:p.Leu751= | |
| ENST00000391828.8:c.2424C>T | ENSP00000375704.4:p.Leu808= | |
| ENST00000642259.1:c.2460C>T | ENSP00000494332.1:n.2460C>T | |
| ENST00000643234.2:c.2364C>T | ENSP00000493674.2:p.Leu788= | |
| ENST00000336119.7:c.2430C>T | ENSP00000337383.3:p.Leu810= | |
| ENST00000348069.6:c.2259C>T | ENSP00000294752.3:p.Leu753= | |
| ENST00000366496.6:c.2430C>T | ENSP00000355452.2:p.Leu810= | |
| ENST00000366497.6:c.2430C>T | ENSP00000355453.2:p.Leu810= | |
| ENST00000391827.2:c.2259C>T | ENSP00000375703.2:p.Leu753= | |
| ENST00000391828.7:c.2430C>T | ENSP00000375704.3:p.Leu810= | |
| NM_001079821.2:c.2430C>T | NP_001073289.1:p.Leu810= | |
| NM_001127461.2:c.2430C>T | NP_001120933.1:p.Leu810= | |
| NM_001127462.2:c.2259C>T | NP_001120934.1:p.Leu753= | |
| NM_001243133.1:c.2424C>T | NP_001230062.1:p.Leu808= | |
| NM_004895.4:c.2430C>T , LRG_197t1:c.2430C>T | NP_004886.3:p.Leu810= | |
| NM_183395.2:c.2259C>T | NP_899632.1:p.Leu753= | |
| XM_005273036.2:c.2430C>T | XP_005273093.1:p.Leu810= | |
| XM_005273037.2:c.2430C>T | XP_005273094.1:p.Leu810= | |
| XM_011544048.1:c.2430C>T | XP_011542350.1:p.Leu810= | |
| XM_011544049.1:c.2430C>T | XP_011542351.1:p.Leu810= | |
| XM_011544050.1:c.2430C>T | XP_011542352.1:p.Leu810= | |
| XM_011544051.1:c.2430C>T | XP_011542353.1:p.Leu810= | |
| XM_011544052.1:c.2259C>T | XP_011542354.1:p.Leu753= | |
| XM_011544053.1:c.2327+4450C>T | XP_011542355.1:n.2327+4450C>T | |
| XM_011544054.1:c.2259C>T | XP_011542356.1:p.Leu753= | |
| XM_011544055.1:c.2156+8606C>T | XP_011542357.1:n.2156+8606C>T | |
| XM_011544048.2:c.2430C>T | XP_011542350.1:p.Leu810= | |
| XM_017000181.1:c.2430C>T | XP_016855670.1:p.Leu810= | |
| XM_017000182.1:c.2430C>T | XP_016855671.1:p.Leu810= | |
| XM_017000183.1:c.2259C>T | XP_016855672.1:p.Leu753= | |
| XM_017000184.1:c.2259C>T | XP_016855673.1:p.Leu753= | |
| XM_024452862.1:c.2327+4450C>T | XP_024308630.1:n.2327+4450C>T | |
| XM_024452874.1:c.2156+8606C>T | XP_024308642.1:n.2156+8606C>T | |
| NM_001079821.3:c.2424C>T | NP_001073289.2:p.Leu808= | |
| NM_001127461.3:c.2424C>T | NP_001120933.2:p.Leu808= | |
| NM_001127462.3:c.2253C>T | NP_001120934.2:p.Leu751= | |
| NM_001243133.2:c.2424C>T MANE Select | NP_001230062.1:p.Leu808= | |
| NM_004895.5:c.2430C>T | NP_004886.3:p.Leu810= | |
| NM_183395.3:c.2253C>T | NP_899632.2:p.Leu751= |