Linked Data
ClinVar Variation Id:
296948
ClinVar RCV Id:
RCV000294387
RCV000333083
RCV000389825
RCV000825206
RCV000832533
RCV001078791
RCV002262944
dbSNP Id:
rs144469697
ExAC:
1:247588396 T / C
gnomAD v2:
1-247588396-T-C
gnomAD v3:
1-247425094-T-C
gnomAD v4:
1-247425094-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247425094T>C , CM000663.2:g.247425094T>C | GRCh38 |
| NC_000001.10:g.247588396T>C , CM000663.1:g.247588396T>C | GRCh37 |
| NC_000001.9:g.245655019T>C | NCBI36 |
| NG_007509.2:g.13922T>C , LRG_197:g.13922T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697350.1:c.1645T>C | ENSP00000513275.1:p.Leu549= | |
| ENST00000336119.8:c.1645T>C MANE Select | ENSP00000337383.4:p.Leu549= | |
| ENST00000348069.7:c.1645T>C | ENSP00000294752.4:p.Leu549= | |
| ENST00000366496.7:c.1645T>C | ENSP00000355452.3:p.Leu549= | |
| ENST00000391827.3:c.1645T>C | ENSP00000375703.3:p.Leu549= | |
| ENST00000391828.8:c.1645T>C | ENSP00000375704.4:p.Leu549= | |
| ENST00000474792.2:c.1645T>C | ENSP00000493937.2:p.Leu549= | |
| ENST00000642259.1:c.1510T>C | ENSP00000494332.1:p.Leu504= | |
| ENST00000643234.2:c.1645T>C | ENSP00000493674.2:p.Leu549= | |
| ENST00000336119.7:c.1651T>C | ENSP00000337383.3:p.Leu551= | |
| ENST00000348069.6:c.1651T>C | ENSP00000294752.3:p.Leu551= | |
| ENST00000366496.6:c.1651T>C | ENSP00000355452.2:p.Leu551= | |
| ENST00000366497.6:c.1651T>C | ENSP00000355453.2:p.Leu551= | |
| ENST00000391827.2:c.1651T>C | ENSP00000375703.2:p.Leu551= | |
| ENST00000391828.7:c.1651T>C | ENSP00000375704.3:p.Leu551= | |
| ENST00000474792.1:n.1826T>C | ||
| NM_001079821.2:c.1651T>C | NP_001073289.1:p.Leu551= | |
| NM_001127461.2:c.1651T>C | NP_001120933.1:p.Leu551= | |
| NM_001127462.2:c.1651T>C | NP_001120934.1:p.Leu551= | |
| NM_001243133.1:c.1645T>C | NP_001230062.1:p.Leu549= | |
| NM_004895.4:c.1651T>C , LRG_197t1:c.1651T>C | NP_004886.3:p.Leu551= | |
| NM_183395.2:c.1651T>C | NP_899632.1:p.Leu551= | |
| XM_005273036.2:c.1651T>C | XP_005273093.1:p.Leu551= | |
| XM_005273037.2:c.1651T>C | XP_005273094.1:p.Leu551= | |
| XM_011544048.1:c.1651T>C | XP_011542350.1:p.Leu551= | |
| XM_011544049.1:c.1651T>C | XP_011542351.1:p.Leu551= | |
| XM_011544050.1:c.1651T>C | XP_011542352.1:p.Leu551= | |
| XM_011544051.1:c.1651T>C | XP_011542353.1:p.Leu551= | |
| XM_011544052.1:c.1651T>C | XP_011542354.1:p.Leu551= | |
| XM_011544053.1:c.1651T>C | XP_011542355.1:p.Leu551= | |
| XM_011544054.1:c.1651T>C | XP_011542356.1:p.Leu551= | |
| XM_011544055.1:c.1651T>C | XP_011542357.1:p.Leu551= | |
| XM_011544048.2:c.1651T>C | XP_011542350.1:p.Leu551= | |
| XM_017000181.1:c.1651T>C | XP_016855670.1:p.Leu551= | |
| XM_017000182.1:c.1651T>C | XP_016855671.1:p.Leu551= | |
| XM_017000183.1:c.1651T>C | XP_016855672.1:p.Leu551= | |
| XM_017000184.1:c.1651T>C | XP_016855673.1:p.Leu551= | |
| XM_024452862.1:c.1651T>C | XP_024308630.1:p.Leu551= | |
| XM_024452874.1:c.1651T>C | XP_024308642.1:p.Leu551= | |
| NM_001079821.3:c.1645T>C | NP_001073289.2:p.Leu549= | |
| NM_001127461.3:c.1645T>C | NP_001120933.2:p.Leu549= | |
| NM_001127462.3:c.1645T>C | NP_001120934.2:p.Leu549= | |
| NM_001243133.2:c.1645T>C MANE Select | NP_001230062.1:p.Leu549= | |
| NM_004895.5:c.1651T>C | NP_004886.3:p.Leu551= | |
| NM_183395.3:c.1645T>C | NP_899632.2:p.Leu549= |