Linked Data
dbSNP Id:
rs781685082
ExAC:
11:47355255 C / T
gnomAD v2:
11-47355255-C-T
gnomAD v4:
11-47333704-C-T
COSMIC:
COSM927416
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333704C>T , CM000673.2:g.47333704C>T | GRCh38 |
| NC_000011.9:g.47355255C>T , CM000673.1:g.47355255C>T | GRCh37 |
| NC_000011.8:g.47311831C>T | NCBI36 |
| NG_007667.1:g.23999G>A , LRG_386:g.23999G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3043G>A MANE Select | ENSP00000442795.1:p.Ala1015Thr | |
| ENST00000256993.8:c.3043G>A | ENSP00000256993.5:p.Ala1015Thr | |
| ENST00000399249.6:c.3043G>A | ENSP00000382193.2:p.Ala1015Thr | |
| ENST00000545968.5:c.3043G>A | ENSP00000442795.1:p.Ala1015Thr | |
| NM_000256.3:c.3043G>A , LRG_386t1:c.3043G>A MANE Select | NP_000247.2:p.Ala1015Thr | |
| XM_011520117.1:c.3025G>A | XP_011518419.1:p.Ala1009Thr | |
| XM_011520118.1:c.2962G>A | XP_011518420.1:p.Ala988Thr |