Linked Data
dbSNP Id:
rs568988569
ExAC:
2:128183688 A / G
gnomAD v2:
2-128183688-A-G
gnomAD v3:
2-127426112-A-G
gnomAD v4:
2-127426112-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127426112A>G , CM000664.2:g.127426112A>G | GRCh38 |
| NC_000002.11:g.128183688A>G , CM000664.1:g.128183688A>G | GRCh37 |
| NC_000002.10:g.127900158A>G | NCBI36 |
| NG_016323.1:g.12693A>G , LRG_599:g.12693A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234071.8:c.563A>G MANE Select | ENSP00000234071.4:p.Lys188Arg | |
| ENST00000234071.7:c.563A>G | ENSP00000234071.3:p.Lys188Arg | |
| ENST00000402125.2:c.121-2245A>G | ||
| ENST00000409048.1:c.665A>G | ENSP00000386679.1:p.Lys222Arg | |
| ENST00000442644.5:c.506A>G | ENSP00000411241.1:p.Lys169Arg | |
| ENST00000464089.1:n.149A>G | ||
| NM_000312.3:c.563A>G , LRG_599t1:c.563A>G | NP_000303.1:p.Lys188Arg | |
| XM_005263715.3:c.746A>G | XP_005263772.1:p.Lys249Arg | |
| XM_005263716.3:c.728A>G | XP_005263773.1:p.Lys243Arg | |
| XM_005263717.3:c.626A>G | XP_005263774.1:p.Lys209Arg | |
| XM_005263717.4:c.626A>G | XP_005263774.1:p.Lys209Arg | |
| XM_017004505.1:c.806A>G | XP_016859994.1:p.Lys269Arg | |
| XM_024453002.1:c.908A>G | XP_024308770.1:p.Lys303Arg | |
| XM_024453003.1:c.848A>G | XP_024308771.1:p.Lys283Arg | |
| XM_024453004.1:c.746A>G | XP_024308772.1:p.Lys249Arg | |
| XM_024453005.1:c.728A>G | XP_024308773.1:p.Lys243Arg | |
| XM_024453006.1:c.665A>G | XP_024308774.1:p.Lys222Arg | |
| XR_923313.2:n.4473T>C | ||
| NM_000312.4:c.563A>G MANE Select | NP_000303.1:p.Lys188Arg | |
| NM_001375602.1:c.746A>G | NP_001362531.1:p.Lys249Arg | |
| NM_001375603.1:c.728A>G | NP_001362532.1:p.Lys243Arg | |
| NM_001375604.1:c.626A>G | NP_001362533.1:p.Lys209Arg | |
| NM_001375605.1:c.665A>G | NP_001362534.1:p.Lys222Arg | |
| NM_001375606.1:c.731A>G | NP_001362535.1:p.Lys244Arg | |
| NM_001375607.1:c.749A>G | NP_001362536.1:p.Lys250Arg | |
| NM_001375608.1:c.506A>G | NP_001362537.1:p.Lys169Arg | |
| NM_001375609.1:c.539A>G | NP_001362538.1:p.Lys180Arg | |
| NM_001375610.1:c.557A>G | NP_001362539.1:p.Lys186Arg | |
| NM_001375611.1:c.563A>G | NP_001362540.1:p.Lys188Arg | |
| NM_001375613.1:c.563A>G | NP_001362542.1:p.Lys188Arg |