Linked Data
dbSNP Id:
rs371114044
ExAC:
2:203420385 A / G
gnomAD v2:
2-203420385-A-G
gnomAD v3:
2-202555662-A-G
gnomAD v4:
2-202555662-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202555662A>G , CM000664.2:g.202555662A>G | GRCh38 |
| NC_000002.11:g.203420385A>G , CM000664.1:g.203420385A>G | GRCh37 |
| NC_000002.10:g.203128630A>G | NCBI36 |
| NG_009363.1:g.184336A>G , LRG_712:g.184336A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1997A>G MANE Select | ENSP00000363708.4:p.Asn666Ser | |
| ENST00000638587.1:c.1928A>G | ENSP00000491062.1:n.1928A>G | |
| ENST00000374574.2:c.1586+2774A>G | ENSP00000363702.2:n.1586+2774A>G | |
| ENST00000374580.8:c.1997A>G | ENSP00000363708.4:p.Asn666Ser | |
| NM_001204.6:c.1997A>G , LRG_712t1:c.1997A>G | NP_001195.2:p.Asn666Ser | |
| XM_011511687.1:c.1997A>G | XP_011509989.1:p.Asn666Ser | |
| XM_011511688.1:c.1586+2774A>G | XP_011509990.1:n.1586+2774A>G | |
| NM_001204.7:c.1997A>G MANE Select | NP_001195.2:p.Asn666Ser |