Linked Data
dbSNP Id:
rs886277
ExAC:
11:2439767 T / C
gnomAD v2:
11-2439767-T-C
gnomAD v3:
11-2418537-T-C
gnomAD v4:
11-2418537-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2418537T>C , CM000673.2:g.2418537T>C | GRCh38 |
| NC_000011.9:g.2439767T>C , CM000673.1:g.2439767T>C | GRCh37 |
| NC_000011.8:g.2396343T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696290.1:c.704A>G MANE Select | ENSP00000512529.1:p.Asn235Ser | |
| ENST00000155858.10:c.704A>G | ENSP00000155858.5:p.Asn235Ser | |
| ENST00000528453.1:c.704A>G | ENSP00000436809.1:p.Asn235Ser | |
| ENST00000533060.5:c.704A>G | ENSP00000434121.1:p.Asn235Ser | |
| ENST00000533881.5:c.686A>G | ENSP00000434383.1:p.Asn229Ser | |
| NM_014555.3:c.704A>G | NP_055370.1:p.Asn235Ser | |
| XM_011520035.1:c.965A>G | XP_011518337.1:p.Asn322Ser | |
| XM_017017628.1:c.758A>G | XP_016873117.1:p.Asn253Ser | |
| NM_014555.4:c.704A>G MANE Select | NP_055370.1:p.Asn235Ser |