Linked Data
ClinVar Variation Id:
1915041
ClinVar RCV Id:
RCV002601179
dbSNP Id:
rs121918152
gnomAD v2:
2-128183783-C-A
gnomAD v3:
2-127426207-C-A
gnomAD v4:
2-127426207-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127426207C>A , CM000664.2:g.127426207C>A | GRCh38 |
| NC_000002.11:g.128183783C>A , CM000664.1:g.128183783C>A | GRCh37 |
| NC_000002.10:g.127900253C>A | NCBI36 |
| NG_016323.1:g.12788C>A , LRG_599:g.12788C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234071.8:c.658C>A MANE Select | ENSP00000234071.4:p.Arg220= | |
| ENST00000234071.7:c.658C>A | ENSP00000234071.3:p.Arg220= | |
| ENST00000402125.2:c.121-2150C>A | ||
| ENST00000409048.1:c.760C>A | ENSP00000386679.1:p.Arg254= | |
| ENST00000464089.1:n.244C>A | ||
| NM_000312.3:c.658C>A , LRG_599t1:c.658C>A | NP_000303.1:p.Arg220= | |
| XM_005263715.3:c.841C>A | XP_005263772.1:p.Arg281= | |
| XM_005263716.3:c.823C>A | XP_005263773.1:p.Arg275= | |
| XM_005263717.3:c.721C>A | XP_005263774.1:p.Arg241= | |
| XM_005263717.4:c.721C>A | XP_005263774.1:p.Arg241= | |
| XM_017004505.1:c.901C>A | XP_016859994.1:p.Arg301= | |
| XM_024453002.1:c.1003C>A | XP_024308770.1:p.Arg335= | |
| XM_024453003.1:c.943C>A | XP_024308771.1:p.Arg315= | |
| XM_024453004.1:c.841C>A | XP_024308772.1:p.Arg281= | |
| XM_024453005.1:c.823C>A | XP_024308773.1:p.Arg275= | |
| XM_024453006.1:c.760C>A | XP_024308774.1:p.Arg254= | |
| XR_923313.2:n.4378G>T | ||
| NM_000312.4:c.658C>A MANE Select | NP_000303.1:p.Arg220= | |
| NM_001375602.1:c.841C>A | NP_001362531.1:p.Arg281= | |
| NM_001375603.1:c.823C>A | NP_001362532.1:p.Arg275= | |
| NM_001375604.1:c.721C>A | NP_001362533.1:p.Arg241= | |
| NM_001375605.1:c.760C>A | NP_001362534.1:p.Arg254= | |
| NM_001375606.1:c.826C>A | NP_001362535.1:p.Arg276= | |
| NM_001375607.1:c.844C>A | NP_001362536.1:p.Arg282= | |
| NM_001375608.1:c.601C>A | NP_001362537.1:p.Arg201= | |
| NM_001375609.1:c.634C>A | NP_001362538.1:p.Arg212= | |
| NM_001375610.1:c.652C>A | NP_001362539.1:p.Arg218= | |
| NM_001375611.1:c.658C>A | NP_001362540.1:p.Arg220= | |
| NM_001375613.1:c.658C>A | NP_001362542.1:p.Arg220= |