Linked Data
ClinVar Variation Id:
328336
dbSNP Id:
rs201222388
ExAC:
19:1387814 T / C
gnomAD v2:
19-1387814-T-C
gnomAD v3:
19-1387815-T-C
gnomAD v4:
19-1387815-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1387815T>C , CM000681.2:g.1387815T>C | GRCh38 |
| NC_000019.9:g.1387814T>C , CM000681.1:g.1387814T>C | GRCh37 |
| NC_000019.8:g.1338814T>C | NCBI36 |
| NG_008283.1:g.8932T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233627.14:c.21T>C MANE Select | ENSP00000233627.9:p.Pro7= | |
| ENST00000233627.13:c.21T>C | ENSP00000233627.9:p.Pro7= | |
| ENST00000313408.11:c.21T>C | ENSP00000364262.5:p.Pro7= | |
| ENST00000414651.3:c.21T>C | ENSP00000406630.2:p.Pro7= | |
| ENST00000436115.6:n.44T>C | ||
| ENST00000534853.5:c.16T>C | ENSP00000442822.1:p.Trp6Arg | |
| ENST00000538523.5:n.77T>C | ||
| ENST00000538662.5:n.48T>C | ||
| ENST00000538929.5:n.111T>C | ||
| ENST00000539480.5:c.21T>C | ENSP00000443273.1:p.Pro7= | |
| ENST00000540530.5:n.12T>C | ||
| ENST00000543289.5:n.272T>C | ||
| ENST00000545446.5:n.73T>C | ||
| ENST00000546172.7:c.*17T>C | ENSP00000467094.1:n.*17T>C | |
| ENST00000546283.5:c.21T>C | ENSP00000440348.1:p.Pro7= | |
| ENST00000618074.4:c.21T>C | ENSP00000477895.1:p.Pro7= | |
| ENST00000620479.4:c.21T>C | ENSP00000480984.1:p.Pro7= | |
| ENST00000622587.4:n.17T>C | ||
| NM_024407.4:c.21T>C | NP_077718.3:p.Pro7= | |
| XM_005259556.3:c.21T>C | XP_005259613.2:p.Pro7= | |
| NM_001363602.1:c.21T>C | NP_001350531.1:p.Pro7= | |
| XM_017026768.2:c.21T>C | XP_016882257.2:p.Pro7= | |
| NM_024407.5:c.21T>C MANE Select | NP_077718.3:p.Pro7= | |
| NM_001363602.2:c.21T>C | NP_001350531.1:p.Pro7= |