Linked Data
dbSNP Id:
rs751621970
ExAC:
19:1391072 A / G
gnomAD v2:
19-1391072-A-G
gnomAD v3:
19-1391073-A-G
gnomAD v4:
19-1391073-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1391073A>G , CM000681.2:g.1391073A>G | GRCh38 |
| NC_000019.9:g.1391072A>G , CM000681.1:g.1391072A>G | GRCh37 |
| NC_000019.8:g.1342072A>G | NCBI36 |
| NG_008283.1:g.12190A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233627.14:c.408+23A>G MANE Select | ENSP00000233627.9:n.408+23A>G | |
| ENST00000233627.13:c.408+23A>G | ENSP00000233627.9:n.408+23A>G | |
| ENST00000313408.11:c.408+23A>G | ENSP00000364262.5:n.408+23A>G | |
| ENST00000414651.3:c.498+23A>G | ENSP00000406630.2:n.498+23A>G | |
| ENST00000436115.6:n.2363+23A>G | ||
| ENST00000534853.5:c.*202+23A>G | ENSP00000442822.1:n.*202+23A>G | |
| ENST00000535382.1:n.660+23A>G | ||
| ENST00000538523.5:n.464+23A>G | ||
| ENST00000538662.5:n.458A>G | ||
| ENST00000538929.5:n.498+23A>G | ||
| ENST00000539480.5:c.408+23A>G | ENSP00000443273.1:n.408+23A>G | |
| ENST00000540530.5:n.399+23A>G | ||
| ENST00000543289.5:n.921A>G | ||
| ENST00000545446.5:n.699+23A>G | ||
| ENST00000546172.7:c.*404+23A>G | ENSP00000467094.1:n.*404+23A>G | |
| ENST00000546283.5:c.408+23A>G | ENSP00000440348.1:n.408+23A>G | |
| ENST00000618074.4:c.415A>G | ENSP00000477895.1:p.Ser139Gly | |
| ENST00000620479.4:c.408+23A>G | ENSP00000480984.1:n.408+23A>G | |
| ENST00000622587.4:n.427A>G | ||
| NM_024407.4:c.408+23A>G | NP_077718.3:n.408+23A>G | |
| XM_005259556.3:c.408+23A>G | XP_005259613.2:n.408+23A>G | |
| NM_001363602.1:c.408+23A>G | NP_001350531.1:n.408+23A>G | |
| XM_024451499.1:c.429+23A>G | XP_024307267.1:n.429+23A>G | |
| NM_024407.5:c.408+23A>G MANE Select | NP_077718.3:n.408+23A>G | |
| NM_001363602.2:c.408+23A>G | NP_001350531.1:n.408+23A>G |