Linked Data
ClinVar Variation Id:
324136
dbSNP Id:
rs238238
ExAC:
17:4856376 A / G
gnomAD v2:
17-4856376-A-G
gnomAD v3:
17-4953081-A-G
gnomAD v4:
17-4953081-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4953081A>G , CM000679.2:g.4953081A>G | GRCh38 |
| NC_000017.10:g.4856376A>G , CM000679.1:g.4856376A>G | GRCh37 |
| NG_012063.2:g.11991A>G | |
| NG_032945.1:g.1006T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000519602.6:c.212A>G MANE Select | ENSP00000430055.2:p.Asn71Ser | |
| ENST00000323997.10:c.212A>G | ENSP00000324105.6:p.Asn71Ser | |
| ENST00000518175.1:c.212A>G | ENSP00000431087.1:p.Asn71Ser | |
| ENST00000519584.5:c.181+191A>G | ENSP00000430636.1:n.181+191A>G | |
| ENST00000519602.5:c.212A>G | ENSP00000430055.1:p.Asn71Ser | |
| ENST00000519834.5:n.278A>G | ||
| ENST00000520221.5:c.212A>G | ENSP00000467444.1:p.Asn71Ser | |
| ENST00000521659.5:c.*158A>G | ENSP00000430554.1:n.*158A>G | |
| ENST00000521811.5:c.212A>G | ENSP00000464874.1:p.Asn71Ser | |
| ENST00000522249.5:c.212A>G | ENSP00000428811.1:p.Asn71Ser | |
| ENST00000522301.5:c.212A>G | ENSP00000465697.1:p.Asn71Ser | |
| ENST00000522798.5:c.212A>G | ENSP00000428502.1:p.Asn71Ser | |
| ENST00000571235.5:n.438A>G | ||
| NM_001193503.1:c.181+191A>G | NP_001180432.1:n.181+191A>G | |
| NM_001976.4:c.212A>G | NP_001967.3:p.Asn71Ser | |
| NM_053013.3:c.212A>G | NP_443739.3:p.Asn71Ser | |
| XM_005256521.2:c.239A>G | XP_005256578.1:p.Asn80Ser | |
| XM_011523729.1:c.212A>G | XP_011522031.1:p.Asn71Ser | |
| XM_017024346.2:c.212A>G | XP_016879835.1:p.Asn71Ser | |
| NM_001193503.2:c.181+191A>G | NP_001180432.1:n.181+191A>G | |
| NM_001374523.1:c.212A>G | NP_001361452.1:p.Asn71Ser | |
| NM_001374524.1:c.239A>G | NP_001361453.1:p.Asn80Ser | |
| NM_001976.5:c.212A>G | NP_001967.3:p.Asn71Ser | |
| NM_053013.4:c.212A>G MANE Select | NP_443739.3:p.Asn71Ser |