Linked Data
dbSNP Id:
rs1255853684
gnomAD v2:
2-131350569-C-T
gnomAD v3:
2-130592996-C-T
gnomAD v4:
2-130592996-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.130592996C>T , CM000664.2:g.130592996C>T | GRCh38 |
| NC_000002.11:g.131350569C>T , CM000664.1:g.131350569C>T | GRCh37 |
| NC_000002.10:g.131067039C>T | NCBI36 |
| NG_008148.1:g.11514G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259216.6:c.553G>A MANE Select | ENSP00000259216.5:p.Ala185Thr | |
| ENST00000259216.4:c.553G>A | ENSP00000259216.4:p.Ala185Thr | |
| ENST00000615342.4:c.438G>A | ENSP00000480526.1:p.Ala146= | |
| ENST00000621673.4:c.328G>A | ENSP00000480843.1:p.Ala110Thr | |
| NM_001270420.1:c.438G>A | NP_001257349.1:p.Ala146= | |
| NM_001270421.1:c.328G>A | NP_001257350.1:p.Ala110Thr | |
| NM_032545.3:c.553G>A | NP_115934.1:p.Ala185Thr | |
| NM_032545.4:c.553G>A MANE Select | NP_115934.1:p.Ala185Thr | |
| NM_001270420.2:c.438G>A | NP_001257349.1:p.Ala146= | |
| NM_001270421.2:c.328G>A | NP_001257350.1:p.Ala110Thr |