Linked Data
dbSNP Id:
rs1412751788
gnomAD v2:
14-45403707-G-A
gnomAD v3:
14-44934504-G-A
gnomAD v4:
14-44934504-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.44934504G>A , CM000676.2:g.44934504G>A | GRCh38 |
| NC_000014.8:g.45403707G>A , CM000676.1:g.45403707G>A | GRCh37 |
| NC_000014.7:g.44473457G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396128.9:c.954C>T MANE Select | ENSP00000379434.4:p.Asn318= | |
| ENST00000355081.3:c.996C>T | ENSP00000347193.2:p.Asn332= | |
| ENST00000396128.8:c.954C>T | ENSP00000379434.3:p.Asn318= | |
| NM_001308112.1:c.996C>T | NP_001295041.1:p.Asn332= | |
| NM_017658.3:c.954C>T | NP_060128.2:p.Asn318= | |
| NM_017658.4:c.954C>T | NP_060128.2:p.Asn318= | |
| XM_005267770.2:c.954C>T | XP_005267827.1:p.Asn318= | |
| XM_011536847.1:c.954C>T | XP_011535149.1:p.Asn318= | |
| XM_011536848.1:c.954C>T | XP_011535150.1:p.Asn318= | |
| XM_011536849.1:c.996C>T | XP_011535151.1:p.Asn332= | |
| XM_005267770.4:c.954C>T | XP_005267827.1:p.Asn318= | |
| XM_011536847.3:c.954C>T | XP_011535149.1:p.Asn318= | |
| XM_011536849.2:c.996C>T | XP_011535151.1:p.Asn332= | |
| XM_024449635.1:c.954C>T | XP_024305403.1:p.Asn318= | |
| NM_001308112.2:c.996C>T | NP_001295041.1:p.Asn332= | |
| NM_017658.5:c.954C>T MANE Select | NP_060128.2:p.Asn318= |