Linked Data
dbSNP Id:
rs1213926938
gnomAD v2:
12-116675423-C-T
gnomAD v3:
12-116237618-C-T
gnomAD v4:
12-116237618-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116237618C>T , CM000674.2:g.116237618C>T | GRCh38 |
| NC_000012.11:g.116675423C>T , CM000674.1:g.116675423C>T | GRCh37 |
| NC_000012.10:g.115159806C>T | NCBI36 |
| NG_023366.1:g.44569G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.160G>A MANE Select | ENSP00000281928.3:p.Asp54Asn | |
| ENST00000548743.2:c.130G>A | ENSP00000448553.2:p.Asp44Asn | |
| ENST00000551197.2:c.110G>A | ||
| ENST00000647567.1:c.70G>A | ENSP00000497136.1:p.Asp24Asn | |
| ENST00000650226.1:c.160G>A | ENSP00000496981.1:p.Asp54Asn | |
| ENST00000650375.1:n.322G>A | ||
| ENST00000281928.7:c.160G>A | ENSP00000281928.3:p.Asp54Asn | |
| ENST00000548743.1:c.130G>A | ENSP00000448553.1:p.Asp44Asn | |
| ENST00000551197.1:n.110G>A | ||
| NM_015335.4:c.160G>A | NP_056150.1:p.Asp54Asn | |
| XM_011538080.1:c.160G>A | XP_011536382.1:p.Asp54Asn | |
| XM_011538081.1:c.160G>A | XP_011536383.1:p.Asp54Asn | |
| XM_011538082.1:c.130G>A | XP_011536384.1:p.Asp44Asn | |
| XM_011538080.2:c.160G>A | XP_011536382.1:p.Asp54Asn | |
| XM_011538081.2:c.160G>A | XP_011536383.1:p.Asp54Asn | |
| XM_011538082.2:c.130G>A | XP_011536384.1:p.Asp44Asn | |
| XM_017019090.1:c.160G>A | XP_016874579.1:p.Asp54Asn | |
| NM_015335.5:c.160G>A MANE Select | NP_056150.1:p.Asp54Asn |