Linked Data
ClinVar Variation Id:
379161
dbSNP Id:
rs777911034
ExAC:
5:161322688 C / T
gnomAD v2:
5-161322688-C-T
gnomAD v3:
5-161895682-C-T
gnomAD v4:
5-161895682-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161895682C>T , CM000667.2:g.161895682C>T | GRCh38 |
| NC_000005.9:g.161322688C>T , CM000667.1:g.161322688C>T | GRCh37 |
| NC_000005.8:g.161255266C>T | NCBI36 |
| NG_011548.1:g.53492C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393943.10:c.873C>T MANE Select | ENSP00000377517.4:p.Leu291= | |
| ENST00000635880.1:c.873C>T | ENSP00000489738.1:p.Leu291= | |
| ENST00000635916.2:n.2474C>T | ||
| ENST00000636340.1:c.*722C>T | ENSP00000490002.1:n.*722C>T | |
| ENST00000636408.1:n.677C>T | ||
| ENST00000636573.1:c.873C>T | ENSP00000490320.1:p.Leu291= | |
| ENST00000637044.1:c.*647C>T | ENSP00000490684.1:n.*647C>T | |
| ENST00000637827.1:c.873C>T | ENSP00000490804.1:p.Leu291= | |
| ENST00000638112.1:c.873C>T | ENSP00000489839.1:p.Leu291= | |
| ENST00000638159.1:c.918C>T | ENSP00000490360.1:p.Leu306= | |
| ENST00000023897.10:c.873C>T | ENSP00000023897.6:p.Leu291= | |
| ENST00000393943.9:c.873C>T | ENSP00000377517.4:p.Leu291= | |
| ENST00000428797.7:c.873C>T | ENSP00000393097.2:p.Leu291= | |
| ENST00000437025.6:c.873C>T | ENSP00000415441.2:p.Leu291= | |
| NM_000806.5:c.873C>T | NP_000797.2:p.Leu291= | |
| NM_001127643.1:c.873C>T | NP_001121115.1:p.Leu291= | |
| NM_001127644.1:c.873C>T | NP_001121116.1:p.Leu291= | |
| NM_001127645.1:c.873C>T | NP_001121117.1:p.Leu291= | |
| NM_001127648.1:c.873C>T | NP_001121120.1:p.Leu291= | |
| NM_001127644.2:c.873C>T MANE Select | NP_001121116.1:p.Leu291= | |
| NM_001127643.2:c.873C>T | NP_001121115.1:p.Leu291= | |
| NM_001127645.2:c.873C>T | NP_001121117.1:p.Leu291= | |
| NM_001127648.2:c.873C>T | NP_001121120.1:p.Leu291= |