Linked Data
dbSNP Id:
rs886758563
gnomAD v2:
2-73717269-A-G
gnomAD v3:
2-73490142-A-G
gnomAD v4:
2-73490142-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490142A>G , CM000664.2:g.73490142A>G | GRCh38 |
| NC_000002.11:g.73717269A>G , CM000664.1:g.73717269A>G | GRCh37 |
| NC_000002.10:g.73570777A>G | NCBI36 |
| NG_011690.1:g.109390A>G , LRG_741:g.109390A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7802A>G | ENSP00000507671.1:p.Asn2601Ser | |
| ENST00000682801.1:c.7802A>G | ENSP00000507862.1:p.Asn2601Ser | |
| ENST00000682859.1:c.7802A>G | ENSP00000508222.1:p.Asn2601Ser | |
| ENST00000683791.1:c.1194A>G | ||
| ENST00000684460.1:c.5254A>G | ||
| ENST00000684548.1:c.7802A>G | ENSP00000507421.1:p.Asn2601Ser | |
| ENST00000684590.1:c.2249A>G | ENSP00000507376.1:p.Asn750Ser | |
| ENST00000684656.1:c.5254A>G | ||
| ENST00000613296.6:c.8183A>G MANE Select | ENSP00000482968.1:p.Asn2728Ser | |
| ENST00000651434.1:c.896-29633A>G | ||
| ENST00000423048.5:c.3014A>G | ENSP00000399833.1:p.Asn1005Ser | |
| ENST00000484298.5:c.8057A>G | ENSP00000478155.1:p.Asn2686Ser | |
| ENST00000613296.4:c.8183A>G | ENSP00000482968.1:p.Asn2728Ser | |
| ENST00000614410.4:c.8183A>G | ENSP00000479094.1:p.Asn2728Ser | |
| ENST00000620466.4:n.1986A>G | ||
| NM_015120.4:c.8186A>G , LRG_741t1:c.8186A>G | NP_055935.4:p.Asn2729Ser | |
| NM_001378454.1:c.8183A>G MANE Select | NP_001365383.1:p.Asn2728Ser |