Linked Data
dbSNP Id:
rs745450377
ExAC:
2:88874723 T / C
gnomAD v2:
2-88874723-T-C
gnomAD v4:
2-88575205-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88575205T>C , CM000664.2:g.88575205T>C | GRCh38 |
| NC_000002.11:g.88874723T>C , CM000664.1:g.88874723T>C | GRCh37 |
| NC_000002.10:g.88655838T>C | NCBI36 |
| NG_016424.1:g.57372A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478003.2:n.2106A>G | ||
| ENST00000682276.1:n.1723A>G | ||
| ENST00000682892.1:c.1825A>G | ENSP00000507214.1:p.Asn609Asp | |
| ENST00000682952.1:n.1917A>G | ||
| ENST00000684455.1:c.1491A>G | ||
| ENST00000684642.1:c.1675A>G | ENSP00000507355.1:p.Asn559Asp | |
| ENST00000684740.1:n.2456A>G | ||
| ENST00000303236.9:c.2278A>G MANE Select | ENSP00000307235.3:p.Asn760Asp | |
| ENST00000652099.1:c.2472A>G | ||
| ENST00000652736.1:n.2154A>G | ||
| ENST00000303236.7:c.2278A>G | ENSP00000307235.3:p.Asn760Asp | |
| ENST00000415570.1:c.1915A>G | ENSP00000412076.1:p.Asn639Asp | |
| ENST00000419748.5:c.1825A>G | ENSP00000408325.1:p.Asn609Asp | |
| ENST00000470706.1:n.49-128A>G | ||
| NM_001313915.1:c.1825A>G | NP_001300844.1:p.Asn609Asp | |
| NM_004836.5:c.2278A>G | NP_004827.4:p.Asn760Asp | |
| NM_004836.6:c.2278A>G | NP_004827.4:p.Asn760Asp | |
| NR_110236.1:n.1342T>C | ||
| XM_005264649.3:c.1594A>G | XP_005264706.1:p.Asn532Asp | |
| XM_017005376.2:c.1594A>G | XP_016860865.1:p.Asn532Asp | |
| NM_004836.7:c.2278A>G MANE Select | NP_004827.4:p.Asn760Asp | |
| NM_001313915.2:c.1825A>G | NP_001300844.1:p.Asn609Asp |