Linked Data
dbSNP Id:
rs11466345
gnomAD v2:
19-41843461-T-C
gnomAD v3:
19-41337556-T-C
gnomAD v4:
19-41337556-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41337556T>C , CM000681.2:g.41337556T>C | GRCh38 |
| NC_000019.9:g.41843461T>C , CM000681.1:g.41843461T>C | GRCh37 |
| NC_000019.8:g.46535301T>C | NCBI36 |
| NG_013364.1:g.21371A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000221930.6:c.860+4327A>G MANE Select | ENSP00000221930.4:n.860+4327A>G | |
| ENST00000600196.2:c.712+4614A>G | ENSP00000504008.1:n.712+4614A>G | |
| ENST00000677934.1:c.635-5275A>G | ENSP00000504769.1:n.635-5275A>G | |
| ENST00000221930.5:c.860+4327A>G | ENSP00000221930.4:n.860+4327A>G | |
| ENST00000598758.5:c.148+4327A>G | ||
| ENST00000600196.1:n.172+4614A>G | ||
| NM_000660.5:c.860+4327A>G | NP_000651.3:n.860+4327A>G | |
| XM_011527242.1:c.863+4327A>G | XP_011525544.1:n.863+4327A>G | |
| NM_000660.6:c.860+4327A>G | NP_000651.3:n.860+4327A>G | |
| XM_011527242.2:c.863+4327A>G | XP_011525544.1:n.863+4327A>G | |
| NM_000660.7:c.860+4327A>G MANE Select | NP_000651.3:n.860+4327A>G |