Linked Data
dbSNP Id:
rs771080801
ExAC:
12:103240709 C / A
gnomAD v2:
12-103240709-C-A
gnomAD v4:
12-102846931-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846931C>A , CM000674.2:g.102846931C>A | GRCh38 |
| NC_000012.11:g.103240709C>A , CM000674.1:g.103240709C>A | GRCh37 |
| NC_000012.10:g.101764839C>A | NCBI36 |
| NG_008690.1:g.75672G>T | |
| NG_008690.2:g.116480G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.933G>T MANE Select | ENSP00000448059.1:p.Leu311= | |
| ENST00000307000.7:c.918G>T | ENSP00000303500.2:p.Leu306= | |
| ENST00000549247.6:n.692G>T | ||
| ENST00000551114.2:n.595G>T | ||
| ENST00000553106.5:c.933G>T | ENSP00000448059.1:p.Leu311= | |
| ENST00000635477.1:c.74-2500G>T | ||
| ENST00000635528.1:n.448G>T | ||
| NM_000277.1:c.933G>T | NP_000268.1:p.Leu311= | |
| XM_011538422.1:c.913-2500G>T | XP_011536724.1:n.913-2500G>T | |
| NM_000277.2:c.933G>T | NP_000268.1:p.Leu311= | |
| NM_001354304.1:c.933G>T | NP_001341233.1:p.Leu311= | |
| NM_000277.3:c.933G>T MANE Select | NP_000268.1:p.Leu311= | |
| NM_001354304.2:c.933G>T | NP_001341233.1:p.Leu311= |