Linked Data
dbSNP Id:
rs527441387
ExAC:
14:91739034 T / C
gnomAD v2:
14-91739034-T-C
gnomAD v3:
14-91272690-T-C
gnomAD v4:
14-91272690-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272690T>C , CM000676.2:g.91272690T>C | GRCh38 |
| NC_000014.8:g.91739034T>C , CM000676.1:g.91739034T>C | GRCh37 |
| NC_000014.7:g.90808787T>C | NCBI36 |
| NG_033118.1:g.150155A>G | |
| NG_033118.2:g.150155A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.6022A>G MANE Select | ENSP00000374507.6:p.Ser2008Gly | |
| ENST00000331194.8:c.1456A>G | ENSP00000330332.8:p.Ser486Gly | |
| ENST00000389857.10:c.6022A>G | ENSP00000374507.6:p.Ser2008Gly | |
| ENST00000556726.5:c.2250A>G | ||
| NM_001080414.3:c.6022A>G | NP_001073883.2:p.Ser2008Gly | |
| XM_011536796.1:c.5914A>G | XP_011535098.1:p.Ser1972Gly | |
| XM_011536796.2:c.5914A>G | XP_011535098.1:p.Ser1972Gly | |
| XM_017021336.1:c.3103A>G | XP_016876825.1:p.Ser1035Gly | |
| NM_001080414.4:c.6022A>G MANE Select | NP_001073883.2:p.Ser2008Gly |