Linked Data
dbSNP Id:
rs746019915
ExAC:
14:91739946 T / C
gnomAD v2:
14-91739946-T-C
gnomAD v3:
14-91273602-T-C
gnomAD v4:
14-91273602-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91273602T>C , CM000676.2:g.91273602T>C | GRCh38 |
| NC_000014.8:g.91739946T>C , CM000676.1:g.91739946T>C | GRCh37 |
| NC_000014.7:g.90809699T>C | NCBI36 |
| NG_033118.1:g.149243A>G | |
| NG_033118.2:g.149243A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5110A>G MANE Select | ENSP00000374507.6:p.Ser1704Gly | |
| ENST00000331194.8:c.682A>G | ENSP00000330332.8:p.Ser228Gly | |
| ENST00000334448.5:n.922A>G | ||
| ENST00000389857.10:c.5110A>G | ENSP00000374507.6:p.Ser1704Gly | |
| ENST00000556726.5:c.1338A>G | ||
| NM_001080414.3:c.5110A>G | NP_001073883.2:p.Ser1704Gly | |
| XM_011536796.1:c.5002A>G | XP_011535098.1:p.Ser1668Gly | |
| XR_429316.2:n.5385A>G | ||
| XM_011536796.2:c.5002A>G | XP_011535098.1:p.Ser1668Gly | |
| XM_017021336.1:c.2191A>G | XP_016876825.1:p.Ser731Gly | |
| XR_429316.4:n.5383A>G | ||
| NM_001080414.4:c.5110A>G MANE Select | NP_001073883.2:p.Ser1704Gly |