Linked Data
dbSNP Id:
rs536660672
ExAC:
12:21327618 G / A
gnomAD v2:
12-21327618-G-A
gnomAD v3:
12-21174684-G-A
gnomAD v4:
12-21174684-G-A
COSMIC:
COSM1666788
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174684G>A , CM000674.2:g.21174684G>A | GRCh38 |
| NC_000012.11:g.21327618G>A , CM000674.1:g.21327618G>A | GRCh37 |
| NC_000012.10:g.21218885G>A | NCBI36 |
| NG_011745.1:g.48491G>A , LRG_1022:g.48491G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.334G>A MANE Select | ENSP00000256958.2:p.Ala112Thr | |
| ENST00000256958.2:c.334G>A | ENSP00000256958.2:p.Ala112Thr | |
| ENST00000543498.5:c.426-2092G>A | ||
| NM_006446.4:c.334G>A , LRG_1022t1:c.334G>A | NP_006437.3:p.Ala112Thr | |
| NM_006446.5:c.334G>A MANE Select | NP_006437.3:p.Ala112Thr |