Linked Data
dbSNP Id:
rs773567066
ExAC:
12:102164358 C / A
gnomAD v2:
12-102164358-C-A
gnomAD v4:
12-101770580-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101770580C>A , CM000674.2:g.101770580C>A | GRCh38 |
| NC_000012.11:g.102164358C>A , CM000674.1:g.102164358C>A | GRCh37 |
| NC_000012.10:g.100688489C>A | NCBI36 |
| NG_021243.1:g.65288G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.939G>T MANE Select | ENSP00000299314.7:p.Lys313Asn | |
| ENST00000299314.11:c.939G>T | ENSP00000299314.7:p.Lys313Asn | |
| ENST00000549940.5:c.939G>T | ENSP00000449150.1:p.Lys313Asn | |
| NM_024312.4:c.939G>T | NP_077288.2:p.Lys313Asn | |
| XM_006719593.2:c.939G>T | XP_006719656.1:p.Lys313Asn | |
| XM_011538731.1:c.858G>T | XP_011537033.1:p.Lys286Asn | |
| XM_006719593.3:c.939G>T | XP_006719656.1:p.Lys313Asn | |
| XM_011538731.2:c.858G>T | XP_011537033.1:p.Lys286Asn | |
| XM_017019961.1:c.723G>T | XP_016875450.1:p.Lys241Asn | |
| XM_017019962.2:c.-289G>T | XP_016875451.1:n.-289G>T | |
| NM_024312.5:c.939G>T MANE Select | NP_077288.2:p.Lys313Asn |