Linked Data
dbSNP Id:
rs1350630581
gnomAD v2:
22-20127376-A-G
gnomAD v3:
22-20139853-A-G
gnomAD v4:
22-20139853-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20139853A>G , CM000684.2:g.20139853A>G | GRCh38 |
| NC_000022.10:g.20127376A>G , CM000684.1:g.20127376A>G | GRCh37 |
| NC_000022.9:g.18507376A>G | NCBI36 |
| NG_021420.1:g.13013A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334554.12:c.518A>G MANE Select | ENSP00000334490.7:p.Asn173Ser | |
| ENST00000320602.11:c.384+218A>G | ENSP00000317804.7:n.384+218A>G | |
| ENST00000334554.11:c.518A>G | ENSP00000334490.7:p.Asn173Ser | |
| ENST00000405930.3:c.518A>G | ENSP00000384716.3:p.Asn173Ser | |
| ENST00000436518.5:c.485A>G | ENSP00000412807.1:p.Asn162Ser | |
| ENST00000468112.5:n.58-764A>G | ||
| NM_001185024.1:c.518A>G | NP_001171953.1:p.Asn173Ser | |
| NM_013373.3:c.518A>G | NP_037505.1:p.Asn173Ser | |
| XM_006724239.2:c.518A>G | XP_006724302.1:p.Asn173Ser | |
| NM_001185024.2:c.518A>G | NP_001171953.1:p.Asn173Ser | |
| NM_013373.4:c.518A>G MANE Select | NP_037505.1:p.Asn173Ser |