Linked Data
dbSNP Id:
rs1269017511
gnomAD v2:
6-116938229-A-C
gnomAD v3:
6-116617066-A-C
gnomAD v4:
6-116617066-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116617066A>C , CM000668.2:g.116617066A>C | GRCh38 |
| NC_000006.11:g.116938229A>C , CM000668.1:g.116938229A>C | GRCh37 |
| NC_000006.10:g.117044922A>C | NCBI36 |
| NG_012934.1:g.5588A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229554.10:c.443A>C MANE Select | ENSP00000229554.5:p.Asn148Thr | |
| ENST00000229554.9:c.443A>C | ENSP00000229554.5:p.Asn148Thr | |
| ENST00000368580.4:c.443A>C | ENSP00000357569.4:p.Asn148Thr | |
| ENST00000368581.8:c.443A>C | ENSP00000357570.4:p.Asn148Thr | |
| NM_001010892.2:c.443A>C | NP_001010892.1:p.Asn148Thr | |
| NM_001161664.1:c.443A>C | NP_001155136.1:p.Asn148Thr | |
| XM_006715469.2:c.443A>C | XP_006715532.1:p.Asn148Thr | |
| XM_011535791.1:c.443A>C | XP_011534093.1:p.Asn148Thr | |
| XM_011535792.1:c.443A>C | XP_011534094.1:p.Asn148Thr | |
| XR_942416.1:n.3094A>C | ||
| XM_017010826.1:c.443A>C | XP_016866315.1:p.Asn148Thr | |
| NM_001010892.3:c.443A>C MANE Select | NP_001010892.1:p.Asn148Thr | |
| NM_001161664.2:c.443A>C | NP_001155136.1:p.Asn148Thr |