Linked Data
dbSNP Id:
rs781805504
ExAC:
X:49074421 T / C
gnomAD v2:
X-49074421-T-C
gnomAD v4:
X-49217962-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49217962T>C , CM000685.2:g.49217962T>C | GRCh38 |
| NC_000023.10:g.49074421T>C , CM000685.1:g.49074421T>C | GRCh37 |
| NC_000023.9:g.48961365T>C | NCBI36 |
| NG_009095.2:g.20405A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.2972A>G MANE Select | ENSP00000321618.6:p.Asn991Ser | |
| ENST00000323022.9:c.2972A>G | ENSP00000321618.5:p.Asn991Ser | |
| ENST00000376251.5:c.2810A>G | ENSP00000365427.1:p.Asn937Ser | |
| ENST00000376265.2:c.3005A>G | ENSP00000365441.2:p.Asn1002Ser | |
| NM_001256789.2:c.2972A>G | NP_001243718.1:p.Asn991Ser | |
| NM_001256790.2:c.2810A>G | NP_001243719.1:p.Asn937Ser | |
| NM_005183.3:c.3005A>G | NP_005174.2:p.Asn1002Ser | |
| XM_011543983.1:c.2810A>G | XP_011542285.1:p.Asn937Ser | |
| XM_011543983.2:c.2810A>G | XP_011542285.1:p.Asn937Ser | |
| XM_017029836.1:c.239A>G | XP_016885325.1:p.Asn80Ser | |
| NM_001256789.3:c.2972A>G MANE Select | NP_001243718.1:p.Asn991Ser | |
| NM_001256790.3:c.2810A>G | NP_001243719.1:p.Asn937Ser | |
| NM_005183.4:c.3005A>G | NP_005174.2:p.Asn1002Ser |