Linked Data
dbSNP Id:
rs761677464
ExAC:
1:154437830 A / G
gnomAD v2:
1-154437830-A-G
gnomAD v4:
1-154465354-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154465354A>G , CM000663.2:g.154465354A>G | GRCh38 |
| NC_000001.10:g.154437830A>G , CM000663.1:g.154437830A>G | GRCh37 |
| NC_000001.9:g.152704454A>G | NCBI36 |
| NG_012087.1:g.65162A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368485.8:c.1381A>G MANE Select | ENSP00000357470.3:p.Asn461Asp | |
| ENST00000344086.8:c.*189A>G | ENSP00000340589.4:n.*189A>G | |
| ENST00000368485.7:c.1381A>G | ENSP00000357470.3:p.Asn461Asp | |
| NM_000565.3:c.1381A>G | NP_000556.1:p.Asn461Asp | |
| NM_181359.2:c.*189A>G | NP_852004.1:n.*189A>G | |
| XM_005245139.1:c.*62A>G | XP_005245196.1:n.*62A>G | |
| XM_005245140.1:c.*222A>G | XP_005245197.1:n.*222A>G | |
| XM_006711298.1:c.1429A>G | XP_006711361.1:p.Asn477Asp | |
| XM_005245139.2:c.*62A>G | XP_005245196.1:n.*62A>G | |
| XM_005245140.3:c.*222A>G | XP_005245197.1:n.*222A>G | |
| XM_006711298.2:c.1429A>G | XP_006711361.1:p.Asn477Asp | |
| XM_017001199.2:c.1528A>G | XP_016856688.1:p.Asn510Asp | |
| XM_017001200.2:c.1480A>G | XP_016856689.1:p.Asn494Asp | |
| XM_017001201.2:c.*222A>G | XP_016856690.1:n.*222A>G | |
| NM_000565.4:c.1381A>G MANE Select | NP_000556.1:p.Asn461Asp | |
| NM_181359.3:c.*189A>G | NP_852004.1:n.*189A>G | |
| NM_001382769.1:c.1480A>G | NP_001369698.1:p.Asn494Asp | |
| NM_001382770.1:c.1474A>G | NP_001369699.1:p.Asn492Asp | |
| NM_001382771.1:c.1429A>G | NP_001369700.1:p.Asn477Asp | |
| NM_001382772.1:c.1375A>G | NP_001369701.1:p.Asn459Asp | |
| NM_001382773.1:c.*189A>G | NP_001369702.1:n.*189A>G | |
| NM_001382774.1:c.1021A>G | NP_001369703.1:p.Asn341Asp |