Linked Data
dbSNP Id:
rs752887298
ExAC:
19:44273935 A / G
gnomAD v2:
19-44273935-A-G
gnomAD v4:
19-43769783-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43769783A>G , CM000681.2:g.43769783A>G | GRCh38 |
| NC_000019.9:g.44273935A>G , CM000681.1:g.44273935A>G | GRCh37 |
| NC_000019.8:g.48965775A>G | NCBI36 |
| NG_052672.1:g.17357T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000601549.2:n.488T>C | ||
| ENST00000648053.1:n.298T>C | ||
| ENST00000648319.1:c.866T>C MANE Select | ENSP00000496939.1:p.Leu289Pro | |
| ENST00000262888.7:c.866T>C | ENSP00000262888.3:p.Leu289Pro | |
| ENST00000598836.1:c.45T>C | ||
| ENST00000599720.5:c.*136T>C | ENSP00000472513.1:n.*136T>C | |
| ENST00000600408.1:c.155T>C | ENSP00000472510.1:p.Leu52Pro | |
| ENST00000601549.1:n.175T>C | ||
| ENST00000615047.4:c.470T>C | ENSP00000485014.1:p.Leu157Pro | |
| NM_002250.2:c.866T>C | NP_002241.1:p.Leu289Pro | |
| XM_005258882.2:c.770T>C | XP_005258939.1:p.Leu257Pro | |
| XM_005258883.2:c.677T>C | XP_005258940.1:p.Leu226Pro | |
| XR_935823.1:n.2112T>C | ||
| XR_002958313.1:n.2258T>C | ||
| NM_002250.3:c.866T>C MANE Select | NP_002241.1:p.Leu289Pro |