Linked Data
ClinVar Variation Id:
305800
dbSNP Id:
rs151180675
ExAC:
11:67814929 C / T
gnomAD v2:
11-67814929-C-T
gnomAD v3:
11-68047462-C-T
gnomAD v4:
11-68047462-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68047462C>T , CM000673.2:g.68047462C>T | GRCh38 |
| NC_000011.9:g.67814929C>T , CM000673.1:g.67814929C>T | GRCh37 |
| NC_000011.8:g.67571505C>T | NCBI36 |
| NG_007878.1:g.13447C>T , LRG_115:g.13447C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698254.1:c.724C>T | ENSP00000513629.1:p.Leu242= | |
| ENST00000698255.1:c.1144C>T | ENSP00000513630.1:p.Leu382= | |
| ENST00000698256.1:c.661C>T | ||
| ENST00000698257.1:n.613C>T | ||
| ENST00000698258.1:n.179C>T | ||
| ENST00000698259.1:n.19C>T | ||
| ENST00000265686.8:c.1195C>T MANE Select | ENSP00000265686.3:p.Leu399= | |
| ENST00000265686.7:c.1195C>T | ENSP00000265686.3:p.Leu399= | |
| ENST00000525724.5:n.507C>T | ||
| ENST00000528981.5:c.347C>T | ||
| ENST00000529364.1:c.606C>T | ||
| ENST00000532635.5:c.547C>T | ENSP00000434407.1:p.Leu183= | |
| ENST00000533005.5:n.231C>T | ||
| NM_006019.3:c.1195C>T | NP_006010.2:p.Leu399= | |
| NM_006053.3:c.547C>T | NP_006044.1:p.Leu183= | |
| XM_005273709.2:c.1195C>T | XP_005273766.1:p.Leu399= | |
| XM_011544726.1:c.1195C>T | XP_011543028.1:p.Leu399= | |
| XM_011544727.1:c.1195C>T | XP_011543029.1:p.Leu399= | |
| XM_011544728.1:c.1195C>T | XP_011543030.1:p.Leu399= | |
| XM_011544729.1:c.1211C>T | XP_011543031.1:p.Pro404Leu | |
| XR_949754.1:n.1199C>T | ||
| NM_001351059.1:c.301C>T | NP_001337988.1:p.Leu101= | |
| XM_024448320.1:c.1211C>T | XP_024304088.1:p.Pro404Leu | |
| XM_024448321.1:c.1211C>T | XP_024304089.1:p.Pro404Leu | |
| XM_024448322.1:c.1211C>T | XP_024304090.1:p.Pro404Leu | |
| XM_024448323.1:c.1211C>T | XP_024304091.1:p.Pro404Leu | |
| XM_024448324.1:c.1211C>T | XP_024304092.1:p.Pro404Leu | |
| XR_001747721.2:n.1319C>T | ||
| XR_001747722.1:n.1332C>T | ||
| XR_001747723.2:n.1332C>T | ||
| XR_002957115.1:n.1333C>T | ||
| NM_006019.4:c.1195C>T MANE Select | NP_006010.2:p.Leu399= | |
| NM_001351059.2:c.301C>T | NP_001337988.1:p.Leu101= | |
| NM_006053.4:c.547C>T | NP_006044.1:p.Leu183= |