Linked Data
dbSNP Id:
rs374169014
ExAC:
8:145639375 G / A
gnomAD v2:
8-145639375-G-A
gnomAD v4:
8-144413991-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144413991G>A , CM000670.2:g.144413991G>A | GRCh38 |
| NC_000008.10:g.145639375G>A , CM000670.1:g.145639375G>A | GRCh37 |
| NC_000008.9:g.145610183G>A | NCBI36 |
| NG_012234.2:g.7900C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.1254C>T MANE Select | ENSP00000301305.4:p.Asn418= | |
| ENST00000276833.9:c.1179C>T | ENSP00000276833.5:p.Asn393= | |
| ENST00000301305.7:c.1254C>T | ENSP00000301305.3:p.Asn418= | |
| ENST00000531789.1:n.91C>T | ||
| NM_017767.2:c.1179C>T | NP_060237.2:p.Asn393= | |
| NM_130849.3:c.1254C>T | NP_570901.2:p.Asn418= | |
| XM_006716599.1:c.1254C>T | XP_006716662.1:p.Asn418= | |
| XM_011517153.1:c.972C>T | XP_011515455.1:p.Asn324= | |
| XM_024447188.1:c.972C>T | XP_024302956.1:p.Asn324= | |
| XM_024447189.1:c.972C>T | XP_024302957.1:p.Asn324= | |
| NM_001374839.1:c.972C>T | NP_001361768.1:p.Asn324= | |
| NM_017767.3:c.1179C>T | NP_060237.3:p.Asn393= | |
| NM_130849.4:c.1254C>T MANE Select | NP_570901.3:p.Asn418= |