Linked Data
dbSNP Id:
rs763261408
ExAC:
14:37132668 A / G
gnomAD v2:
14-37132668-A-G
gnomAD v4:
14-36663463-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663463A>G , CM000676.2:g.36663463A>G | GRCh38 |
| NC_000014.8:g.37132668A>G , CM000676.1:g.37132668A>G | GRCh37 |
| NC_000014.7:g.36202419A>G | NCBI36 |
| NG_013357.1:g.10896A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361487.7:c.571A>G MANE Select | ENSP00000355245.6:p.Thr191Ala | |
| ENST00000361487.6:c.571A>G | ENSP00000355245.6:p.Thr191Ala | |
| ENST00000402703.6:c.571A>G | ENSP00000384817.2:p.Thr191Ala | |
| ENST00000554201.1:c.10A>G | ENSP00000450434.1:p.Thr4Ala | |
| NM_006194.3:c.571A>G | NP_006185.1:p.Thr191Ala | |
| NM_001372076.1:c.571A>G MANE Select | NP_001359005.1:p.Thr191Ala | |
| NM_006194.4:c.571A>G | NP_006185.1:p.Thr191Ala |