Linked Data
dbSNP Id:
rs750384364
ExAC:
17:14005449 A / G
gnomAD v2:
17-14005449-A-G
gnomAD v4:
17-14102132-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14102132A>G , CM000679.2:g.14102132A>G | GRCh38 |
| NC_000017.10:g.14005449A>G , CM000679.1:g.14005449A>G | GRCh37 |
| NC_000017.9:g.13946174A>G | NCBI36 |
| NG_008034.1:g.37731A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.514A>G MANE Select | ENSP00000261643.3:p.Thr172Ala | |
| ENST00000664217.1:c.514A>G | ENSP00000499396.1:p.Thr172Ala | |
| ENST00000670279.1:c.514A>G | ENSP00000499450.1:p.Thr172Ala | |
| ENST00000261643.7:c.514A>G | ENSP00000261643.3:p.Thr172Ala | |
| ENST00000580561.1:c.*3A>G | ENSP00000462190.1:n.*3A>G | |
| ENST00000581931.5:c.499+25076A>G | ENSP00000462512.1:n.499+25076A>G | |
| NM_001303.3:c.514A>G | NP_001294.2:p.Thr172Ala | |
| XM_005256458.1:c.514A>G | XP_005256515.1:p.Thr172Ala | |
| XM_011523657.1:c.514A>G | XP_011521959.1:p.Thr172Ala | |
| XM_011523658.1:c.48+25076A>G | XP_011521960.1:n.48+25076A>G | |
| XR_933974.1:n.617A>G | ||
| XR_933975.1:n.617A>G | ||
| NM_001303.4:c.514A>G MANE Select | NP_001294.2:p.Thr172Ala |