Linked Data
dbSNP Id:
rs11666067
gnomAD v2:
19-1389517-C-T
gnomAD v3:
19-1389518-C-T
gnomAD v4:
19-1389518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1389518C>T , CM000681.2:g.1389518C>T | GRCh38 |
| NC_000019.9:g.1389517C>T , CM000681.1:g.1389517C>T | GRCh37 |
| NC_000019.8:g.1340517C>T | NCBI36 |
| NG_008283.1:g.10635C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233627.14:c.228+580C>T MANE Select | ENSP00000233627.9:n.228+580C>T | |
| ENST00000233627.13:c.228+580C>T | ENSP00000233627.9:n.228+580C>T | |
| ENST00000313408.11:c.228+580C>T | ENSP00000364262.5:n.228+580C>T | |
| ENST00000414651.3:c.318+580C>T | ENSP00000406630.2:n.318+580C>T | |
| ENST00000436115.6:n.831C>T | ||
| ENST00000534853.5:c.*22+580C>T | ENSP00000442822.1:n.*22+580C>T | |
| ENST00000535382.1:n.480+580C>T | ||
| ENST00000538523.5:n.284+580C>T | ||
| ENST00000538662.5:n.255+580C>T | ||
| ENST00000538929.5:n.318+580C>T | ||
| ENST00000539480.5:c.228+580C>T | ENSP00000443273.1:n.228+580C>T | |
| ENST00000540530.5:n.219+580C>T | ||
| ENST00000543289.5:n.718+580C>T | ||
| ENST00000545446.5:n.519+580C>T | ||
| ENST00000546172.7:c.*224+580C>T | ENSP00000467094.1:n.*224+580C>T | |
| ENST00000546283.5:c.228+580C>T | ENSP00000440348.1:n.228+580C>T | |
| ENST00000618074.4:c.228+580C>T | ENSP00000477895.1:n.228+580C>T | |
| ENST00000620479.4:c.228+580C>T | ENSP00000480984.1:n.228+580C>T | |
| ENST00000622587.4:n.224+580C>T | ||
| NM_024407.4:c.228+580C>T | NP_077718.3:n.228+580C>T | |
| XM_005259556.3:c.228+580C>T | XP_005259613.2:n.228+580C>T | |
| NM_001363602.1:c.228+580C>T | NP_001350531.1:n.228+580C>T | |
| XM_017026768.2:c.808C>T | XP_016882257.2:p.Pro270Ser | |
| XM_024451499.1:c.249+580C>T | XP_024307267.1:n.249+580C>T | |
| NM_024407.5:c.228+580C>T MANE Select | NP_077718.3:n.228+580C>T | |
| NM_001363602.2:c.228+580C>T | NP_001350531.1:n.228+580C>T |