Linked Data
dbSNP Id:
rs1941264490
gnomAD v3:
11-61955818-C-A
gnomAD v4:
11-61955818-C-A
MyVariant Identifiers:
chr11:g.61723290C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61955818C>A , CM000673.2:g.61955818C>A | GRCh38 |
| NC_000011.9:g.61723290C>A , CM000673.1:g.61723290C>A | GRCh37 |
| NC_000011.8:g.61479866C>A | NCBI36 |
| NG_009033.1:g.10935C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378043.9:c.348C>A MANE Select | ENSP00000367282.4:p.Gly116= | |
| ENST00000378043.8:c.348C>A | ENSP00000367282.4:p.Gly116= | |
| ENST00000449131.6:c.168C>A | ENSP00000399709.2:p.Gly56= | |
| ENST00000524877.5:n.780C>A | ||
| ENST00000524926.5:c.348C>A | ENSP00000432681.1:p.Gly116= | |
| ENST00000526988.1:c.30C>A | ENSP00000433195.1:p.Gly10= | |
| ENST00000529265.5:n.271C>A | ||
| ENST00000533521.5:n.972C>A | ||
| ENST00000534553.5:c.30C>A | ENSP00000431189.1:p.Gly10= | |
| NM_001139443.1:c.168C>A | NP_001132915.1:p.Gly56= | |
| NM_001300786.1:c.168C>A | NP_001287715.1:p.Gly56= | |
| NM_001300787.1:c.168C>A | NP_001287716.1:p.Gly56= | |
| NM_004183.3:c.348C>A | NP_004174.1:p.Gly116= | |
| XM_005274210.2:c.348C>A | XP_005274267.1:p.Gly116= | |
| XM_005274215.2:c.30C>A | XP_005274272.1:p.Gly10= | |
| XM_005274216.2:c.168C>A | XP_005274273.1:p.Gly56= | |
| XM_005274218.3:c.30C>A | XP_005274275.1:p.Gly10= | |
| XM_005274219.2:c.348C>A | XP_005274276.1:p.Gly116= | |
| XM_005274221.2:c.348C>A | XP_005274278.1:p.Gly116= | |
| XM_011545229.1:c.348C>A | XP_011543531.1:p.Gly116= | |
| XM_011545230.1:c.255C>A | XP_011543532.1:p.Gly85= | |
| XM_011545231.1:c.30C>A | XP_011543533.1:p.Gly10= | |
| XM_011545232.1:c.348C>A | XP_011543534.1:p.Gly116= | |
| NM_001363591.1:c.30C>A | NP_001350520.1:p.Gly10= | |
| NM_001363592.1:c.348C>A | NP_001350521.1:p.Gly116= | |
| NM_001363593.1:c.-828C>A | NP_001350522.1:n.-828C>A | |
| NR_134580.1:n.928C>A | ||
| XM_005274210.4:c.348C>A | XP_005274267.1:p.Gly116= | |
| XM_005274215.4:c.30C>A | XP_005274272.1:p.Gly10= | |
| XM_005274216.4:c.168C>A | XP_005274273.1:p.Gly56= | |
| XM_005274219.4:c.348C>A | XP_005274276.1:p.Gly116= | |
| XM_005274221.4:c.348C>A | XP_005274278.1:p.Gly116= | |
| XM_011545229.3:c.348C>A | XP_011543531.1:p.Gly116= | |
| XM_011545230.3:c.255C>A | XP_011543532.1:p.Gly85= | |
| XM_017018230.2:c.30C>A | XP_016873719.1:p.Gly10= | |
| XR_001747952.2:n.846C>A | ||
| XR_001747953.2:n.1038C>A | ||
| XR_001747954.2:n.1038C>A | ||
| XR_002957249.1:n.1920G>T | ||
| NM_004183.4:c.348C>A MANE Select | NP_004174.1:p.Gly116= | |
| NM_001139443.2:c.168C>A | NP_001132915.1:p.Gly56= | |
| NM_001300786.2:c.168C>A | NP_001287715.1:p.Gly56= | |
| NM_001300787.2:c.168C>A | NP_001287716.1:p.Gly56= | |
| NM_001363591.2:c.30C>A | NP_001350520.1:p.Gly10= | |
| NM_001363593.2:c.-828C>A | NP_001350522.1:n.-828C>A | |
| NR_134580.2:n.461C>A |