Linked Data
dbSNP Id:
rs1353831820
gnomAD v2:
5-134367052-C-T
gnomAD v3:
5-135031362-C-T
gnomAD v4:
5-135031362-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031362C>T , CM000667.2:g.135031362C>T | GRCh38 |
| NC_000005.9:g.134367052C>T , CM000667.1:g.134367052C>T | GRCh37 |
| NC_000005.8:g.134394951C>T | NCBI36 |
| NG_012114.1:g.7913G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.316G>A MANE Select | ENSP00000265340.6:p.Ala106Thr | |
| ENST00000265340.11:c.316G>A | ENSP00000265340.6:p.Ala106Thr | |
| ENST00000502676.1:c.316G>A | ENSP00000423624.1:p.Ala106Thr | |
| ENST00000503586.1:c.438G>A | ||
| ENST00000504936.1:n.649G>A | ||
| ENST00000506438.5:c.316G>A | ENSP00000427542.1:p.Ala106Thr | |
| ENST00000507253.5:c.316G>A | ENSP00000422908.1:p.Ala106Thr | |
| NM_002653.4:c.316G>A | NP_002644.4:p.Ala106Thr | |
| NM_002653.5:c.316G>A MANE Select | NP_002644.4:p.Ala106Thr |