Linked Data
dbSNP Id:
rs2017116
ExAC:
2:73717103 G / A
gnomAD v2:
2-73717103-G-A
gnomAD v4:
2-73489976-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73489976G>A , CM000664.2:g.73489976G>A | GRCh38 |
| NC_000002.11:g.73717103G>A , CM000664.1:g.73717103G>A | GRCh37 |
| NC_000002.10:g.73570611G>A | NCBI36 |
| NG_011690.1:g.109224G>A , LRG_741:g.109224G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7636G>A | ENSP00000507671.1:p.Asp2546Asn | |
| ENST00000682801.1:c.7636G>A | ENSP00000507862.1:p.Asp2546Asn | |
| ENST00000682859.1:c.7636G>A | ENSP00000508222.1:p.Asp2546Asn | |
| ENST00000683791.1:c.1028G>A | ||
| ENST00000684460.1:c.5088G>A | ||
| ENST00000684548.1:c.7636G>A | ENSP00000507421.1:p.Asp2546Asn | |
| ENST00000684590.1:c.2083G>A | ENSP00000507376.1:p.Asp695Asn | |
| ENST00000684656.1:c.5088G>A | ||
| ENST00000613296.6:c.8017G>A MANE Select | ENSP00000482968.1:p.Asp2673Asn | |
| ENST00000651434.1:c.896-29799G>A | ||
| ENST00000423048.5:c.2848G>A | ENSP00000399833.1:p.Asp950Asn | |
| ENST00000484298.5:c.7891G>A | ENSP00000478155.1:p.Asp2631Asn | |
| ENST00000613296.4:c.8017G>A | ENSP00000482968.1:p.Asp2673Asn | |
| ENST00000614410.4:c.8017G>A | ENSP00000479094.1:p.Asp2673Asn | |
| ENST00000620466.4:n.1820G>A | ||
| NM_015120.4:c.8020G>A , LRG_741t1:c.8020G>A | NP_055935.4:p.Asp2674Asn | |
| NM_001378454.1:c.8017G>A MANE Select | NP_001365383.1:p.Asp2673Asn |