Linked Data
dbSNP Id:
rs779950443
ExAC:
12:102153848 T / G
gnomAD v2:
12-102153848-T-G
gnomAD v4:
12-101760070-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101760070T>G , CM000674.2:g.101760070T>G | GRCh38 |
| NC_000012.11:g.102153848T>G , CM000674.1:g.102153848T>G | GRCh37 |
| NC_000012.10:g.100677979T>G | NCBI36 |
| NG_021243.1:g.75798A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3209A>C MANE Select | ENSP00000299314.7:p.Asn1070Thr | |
| ENST00000299314.11:c.3209A>C | ENSP00000299314.7:p.Asn1070Thr | |
| ENST00000549194.1:n.75A>C | ||
| ENST00000550718.1:c.21A>C | ||
| NM_024312.4:c.3209A>C | NP_077288.2:p.Asn1070Thr | |
| XM_006719593.2:c.3209A>C | XP_006719656.1:p.Asn1070Thr | |
| XM_011538731.1:c.3128A>C | XP_011537033.1:p.Asn1043Thr | |
| XM_006719593.3:c.3209A>C | XP_006719656.1:p.Asn1070Thr | |
| XM_011538731.2:c.3128A>C | XP_011537033.1:p.Asn1043Thr | |
| XM_017019961.1:c.2993A>C | XP_016875450.1:p.Asn998Thr | |
| XM_017019962.2:c.1982A>C | XP_016875451.1:p.Asn661Thr | |
| NM_024312.5:c.3209A>C MANE Select | NP_077288.2:p.Asn1070Thr |