Linked Data
ClinVar Variation Id:
194499
dbSNP Id:
rs748459878
ExAC:
X:18631362 A / G
gnomAD v2:
X-18631362-A-G
gnomAD v3:
X-18613242-A-G
gnomAD v4:
X-18613242-A-G
ERepo:
CA240506/MONDO:0100039/016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18613242A>G , CM000685.2:g.18613242A>G | GRCh38 |
| NC_000023.10:g.18631362A>G , CM000685.1:g.18631362A>G | GRCh37 |
| NC_000023.9:g.18541283A>G | NCBI36 |
| NG_008475.1:g.192638A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.2243A>G MANE Select | ENSP00000485244.1:p.Asn748Ser | |
| ENST00000635828.1:c.2243A>G | ENSP00000490170.1:p.Asn748Ser | |
| ENST00000674046.1:c.2243A>G | ENSP00000501174.1:p.Asn748Ser | |
| ENST00000379989.6:c.2243A>G | ENSP00000369325.3:p.Asn748Ser | |
| ENST00000379996.7:c.2243A>G | ENSP00000369332.3:p.Asn748Ser | |
| ENST00000463994.4:c.2243A>G | ENSP00000485184.1:p.Asn748Ser | |
| ENST00000623535.1:c.2243A>G | ENSP00000485244.1:p.Asn748Ser | |
| NM_001037343.1:c.2243A>G | NP_001032420.1:p.Asn748Ser | |
| NM_003159.2:c.2243A>G | NP_003150.1:p.Asn748Ser | |
| XM_011545569.1:c.2192A>G | XP_011543871.1:p.Asn731Ser | |
| XM_011545570.1:c.2111A>G | XP_011543872.1:p.Asn704Ser | |
| XR_950484.1:n.2495A>G | ||
| NM_001323289.1:c.2243A>G | NP_001310218.1:p.Asn748Ser | |
| NM_001323289.2:c.2243A>G MANE Select | NP_001310218.1:p.Asn748Ser | |
| NM_001037343.2:c.2243A>G | NP_001032420.1:p.Asn748Ser | |
| NM_003159.3:c.2243A>G | NP_003150.1:p.Asn748Ser |