Linked Data
dbSNP Id:
rs187100223
gnomAD v2:
19-44280141-G-A
gnomAD v3:
19-43775989-G-A
gnomAD v4:
19-43775989-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43775989G>A , CM000681.2:g.43775989G>A | GRCh38 |
| NC_000019.9:g.44280141G>A , CM000681.1:g.44280141G>A | GRCh37 |
| NC_000019.8:g.48971981G>A | NCBI36 |
| NG_052672.1:g.11151C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648319.1:c.255+552C>T MANE Select | ENSP00000496939.1:n.255+552C>T | |
| ENST00000262888.7:c.255+552C>T | ENSP00000262888.3:n.255+552C>T | |
| ENST00000599107.1:n.286+552C>T | ||
| ENST00000599720.5:c.160-3886C>T | ENSP00000472513.1:n.160-3886C>T | |
| ENST00000615047.4:c.70+552C>T | ENSP00000485014.1:n.70+552C>T | |
| NM_002250.2:c.255+552C>T | NP_002241.1:n.255+552C>T | |
| XM_005258882.2:c.160-1370C>T | XP_005258939.1:n.160-1370C>T | |
| XM_005258883.2:c.70+552C>T | XP_005258940.1:n.70+552C>T | |
| XM_011526938.1:c.255+552C>T | XP_011525240.1:n.255+552C>T | |
| XR_935823.1:n.1533+552C>T | ||
| XR_002958313.1:n.1533+552C>T | ||
| NM_002250.3:c.255+552C>T MANE Select | NP_002241.1:n.255+552C>T |