Linked Data
ClinVar Variation Id:
497480
dbSNP Id:
rs749261391
ExAC:
12:102164244 G / A
gnomAD v2:
12-102164244-G-A
gnomAD v3:
12-101770466-G-A
gnomAD v4:
12-101770466-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101770466G>A , CM000674.2:g.101770466G>A | GRCh38 |
| NC_000012.11:g.102164244G>A , CM000674.1:g.102164244G>A | GRCh37 |
| NC_000012.10:g.100688375G>A | NCBI36 |
| NG_021243.1:g.65402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1053C>T MANE Select | ENSP00000299314.7:p.Asn351= | |
| ENST00000299314.11:c.1053C>T | ENSP00000299314.7:p.Asn351= | |
| ENST00000549940.5:c.1053C>T | ENSP00000449150.1:p.Asn351= | |
| NM_024312.4:c.1053C>T | NP_077288.2:p.Asn351= | |
| XM_006719593.2:c.1053C>T | XP_006719656.1:p.Asn351= | |
| XM_011538731.1:c.972C>T | XP_011537033.1:p.Asn324= | |
| XM_006719593.3:c.1053C>T | XP_006719656.1:p.Asn351= | |
| XM_011538731.2:c.972C>T | XP_011537033.1:p.Asn324= | |
| XM_017019961.1:c.837C>T | XP_016875450.1:p.Asn279= | |
| XM_017019962.2:c.-175C>T | XP_016875451.1:n.-175C>T | |
| NM_024312.5:c.1053C>T MANE Select | NP_077288.2:p.Asn351= |