| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169541869T>C , CM000663.2:g.169541869T>C | GRCh38 |
| NC_000001.10:g.169511107T>C , CM000663.1:g.169511107T>C | GRCh37 |
| NC_000001.9:g.167777731T>C | NCBI36 |
| NG_011806.1:g.49663A>G , LRG_553:g.49663A>G |
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.3221A>G MANE Select | NP_000121.2:p.Asn1074Ser |
| ENST00000367797.9:c.3221A>G MANE Select | ENSP00000356771.3:p.Asn1074Ser |
| NM_000130.4:c.3221A>G , LRG_553t1:c.3221A>G | NP_000121.2:p.Asn1074Ser |
| ENST00000367796.3:c.3236A>G | ENSP00000356770.3:p.Asn1079Ser |
| ENST00000367797.7:c.3221A>G | ENSP00000356771.3:p.Asn1074Ser |
| XM_017000660.2:c.2810A>G | XP_016856149.1:p.Asn937Ser |