Linked Data
dbSNP Id:
rs779285186
ExAC:
19:39034295 A / C
gnomAD v2:
19-39034295-A-C
gnomAD v4:
19-38543655-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38543655A>C , CM000681.2:g.38543655A>C | GRCh38 |
| NC_000019.9:g.39034295A>C , CM000681.1:g.39034295A>C | GRCh37 |
| NC_000019.8:g.43726135A>C | NCBI36 |
| NG_008866.1:g.114956A>C , LRG_766:g.114956A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.312A>C | ||
| ENST00000689936.1:c.294A>C | ||
| ENST00000359596.8:c.11902A>C MANE Select | ENSP00000352608.2:p.Ile3968Leu | |
| ENST00000355481.8:c.11887A>C | ENSP00000347667.3:p.Ile3963Leu | |
| ENST00000359596.7:c.11902A>C | ENSP00000352608.2:p.Ile3968Leu | |
| ENST00000360985.7:c.11884A>C | ENSP00000354254.4:p.Ile3962Leu | |
| ENST00000593322.1:c.511A>C | ||
| ENST00000594335.5:c.5271A>C | ||
| NM_000540.2:c.11902A>C , LRG_766t1:c.11902A>C | NP_000531.2:p.Ile3968Leu | |
| NM_001042723.1:c.11887A>C | NP_001036188.1:p.Ile3963Leu | |
| XM_006723317.1:c.11884A>C | XP_006723380.1:p.Ile3962Leu | |
| XM_006723319.1:c.11869A>C | XP_006723382.1:p.Ile3957Leu | |
| XM_011527204.1:c.11899A>C | XP_011525506.1:p.Ile3967Leu | |
| XM_011527205.1:c.11902A>C | XP_011525507.1:p.Ile3968Leu | |
| XM_006723317.2:c.11884A>C | XP_006723380.1:p.Ile3962Leu | |
| XM_006723319.2:c.11869A>C | XP_006723382.1:p.Ile3957Leu | |
| XM_011527205.2:c.11902A>C | XP_011525507.1:p.Ile3968Leu | |
| NM_000540.3:c.11902A>C MANE Select | NP_000531.2:p.Ile3968Leu | |
| NM_001042723.2:c.11887A>C | NP_001036188.1:p.Ile3963Leu |