Linked Data
dbSNP Id:
rs779566613
ExAC:
1:154437619 G / A
gnomAD v2:
1-154437619-G-A
gnomAD v3:
1-154465143-G-A
gnomAD v4:
1-154465143-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154465143G>A , CM000663.2:g.154465143G>A | GRCh38 |
| NC_000001.10:g.154437619G>A , CM000663.1:g.154437619G>A | GRCh37 |
| NC_000001.9:g.152704243G>A | NCBI36 |
| NG_012087.1:g.64951G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368485.8:c.1170G>A MANE Select | ENSP00000357470.3:p.Lys390= | |
| ENST00000344086.8:c.1076G>A | ENSP00000340589.4:p.Arg359Lys | |
| ENST00000368485.7:c.1170G>A | ENSP00000357470.3:p.Lys390= | |
| ENST00000502679.1:n.483G>A | ||
| ENST00000507256.1:n.368G>A | ||
| NM_000565.3:c.1170G>A | NP_000556.1:p.Lys390= | |
| NM_181359.2:c.1076G>A | NP_852004.1:p.Arg359Lys | |
| XM_005245139.1:c.934G>A | XP_005245196.1:p.Asp312Asn | |
| XM_005245140.1:c.*11G>A | XP_005245197.1:n.*11G>A | |
| XM_006711298.1:c.1218G>A | XP_006711361.1:p.Lys406= | |
| XM_006711299.2:c.1124G>A | XP_006711362.1:p.Arg375Lys | |
| XM_005245139.2:c.934G>A | XP_005245196.1:p.Asp312Asn | |
| XM_005245140.3:c.*11G>A | XP_005245197.1:n.*11G>A | |
| XM_006711298.2:c.1218G>A | XP_006711361.1:p.Lys406= | |
| XM_006711299.4:c.1124G>A | XP_006711362.1:p.Arg375Lys | |
| XM_017001199.2:c.1317G>A | XP_016856688.1:p.Lys439= | |
| XM_017001200.2:c.1269G>A | XP_016856689.1:p.Lys423= | |
| XM_017001201.2:c.*11G>A | XP_016856690.1:n.*11G>A | |
| NM_000565.4:c.1170G>A MANE Select | NP_000556.1:p.Lys390= | |
| NM_181359.3:c.1076G>A | NP_852004.1:p.Arg359Lys | |
| NM_001382769.1:c.1269G>A | NP_001369698.1:p.Lys423= | |
| NM_001382770.1:c.1263G>A | NP_001369699.1:p.Lys421= | |
| NM_001382771.1:c.1218G>A | NP_001369700.1:p.Lys406= | |
| NM_001382772.1:c.1164G>A | NP_001369701.1:p.Lys388= | |
| NM_001382773.1:c.1124G>A | NP_001369702.1:p.Arg375Lys | |
| NM_001382774.1:c.810G>A | NP_001369703.1:p.Lys270= |