Linked Data
dbSNP Id:
rs528048938
ExAC:
12:116450675 C / T
gnomAD v3:
12-116012870-C-T
gnomAD v4:
12-116012870-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116012870C>T , CM000674.2:g.116012870C>T | GRCh38 |
| NC_000012.11:g.116450675C>T , CM000674.1:g.116450675C>T | GRCh37 |
| NC_000012.10:g.114935058C>T | NCBI36 |
| NG_023366.1:g.269317G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.1207G>A MANE Select | ENSP00000281928.3:p.Glu403Lys | |
| ENST00000548743.2:c.1177G>A | ENSP00000448553.2:p.Glu393Lys | |
| ENST00000549786.2:c.635G>A | ||
| ENST00000647567.1:c.1114G>A | ENSP00000497136.1:p.Glu372Lys | |
| ENST00000648737.1:n.971G>A | ||
| ENST00000650226.1:c.1207G>A | ENSP00000496981.1:p.Glu403Lys | |
| ENST00000281928.7:c.1207G>A | ENSP00000281928.3:p.Glu403Lys | |
| NM_015335.4:c.1207G>A | NP_056150.1:p.Glu403Lys | |
| XM_011538080.1:c.1207G>A | XP_011536382.1:p.Glu403Lys | |
| XM_011538081.1:c.1207G>A | XP_011536383.1:p.Glu403Lys | |
| XM_011538082.1:c.1177G>A | XP_011536384.1:p.Glu393Lys | |
| XM_011538080.2:c.1207G>A | XP_011536382.1:p.Glu403Lys | |
| XM_011538081.2:c.1207G>A | XP_011536383.1:p.Glu403Lys | |
| XM_011538082.2:c.1177G>A | XP_011536384.1:p.Glu393Lys | |
| XM_017019090.1:c.1207G>A | XP_016874579.1:p.Glu403Lys | |
| NM_015335.5:c.1207G>A MANE Select | NP_056150.1:p.Glu403Lys |