MyVariant.info:
GRCh37
chr9:g.101911519A>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99149237A>C , CM000671.2:g.99149237A>C | GRCh38 |
| NC_000009.11:g.101911519A>C , CM000671.1:g.101911519A>C | GRCh37 |
| NC_000009.10:g.100951340A>C | NCBI36 |
| NG_007461.1:g.49108A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547314.6:c.1237A>C | ENSP00000449934.2:p.Arg413= | |
| ENST00000552573.7:c.1249A>C | ENSP00000447182.3:p.Arg417= | |
| ENST00000548365.6:c.*366A>C | ENSP00000448518.2:n.*366A>C | |
| ENST00000549021.6:c.1006A>C | ENSP00000449028.2:p.Arg336= | |
| ENST00000698941.1:c.1249A>C | ENSP00000514048.1:p.Arg417= | |
| ENST00000698942.1:c.*1240A>C | ENSP00000514049.1:n.*1240A>C | |
| ENST00000698943.1:n.1011A>C | ||
| ENST00000374994.9:c.1444A>C MANE Select | ENSP00000364133.4:p.Arg482= | |
| ENST00000374990.6:c.1213A>C | ENSP00000364129.2:p.Arg405= | |
| ENST00000374994.8:c.1444A>C | ENSP00000364133.4:p.Arg482= | |
| ENST00000549766.5:c.*179A>C | ENSP00000446685.1:n.*179A>C | |
| ENST00000550253.1:c.1237A>C | ENSP00000450052.1:p.Arg413= | |
| ENST00000552516.5:c.1456A>C | ENSP00000447297.1:p.Arg486= | |
| NM_001130916.1:c.1213A>C | NP_001124388.1:p.Arg405= | |
| NM_001130916.2:c.1213A>C | NP_001124388.1:p.Arg405= | |
| NM_001306210.1:c.1456A>C | NP_001293139.1:p.Arg486= | |
| NM_004612.2:c.1444A>C | NP_004603.1:p.Arg482= | |
| NM_004612.3:c.1444A>C | NP_004603.1:p.Arg482= | |
| XM_011518948.1:c.1249A>C | XP_011517250.1:p.Arg417= | |
| XM_011518949.1:c.1237A>C | XP_011517251.1:p.Arg413= | |
| XM_011518950.1:c.1006A>C | XP_011517252.1:p.Arg336= | |
| XM_011518948.2:c.1249A>C | XP_011517250.1:p.Arg417= | |
| XM_011518949.2:c.1237A>C | XP_011517251.1:p.Arg413= | |
| XM_011518950.2:c.1006A>C | XP_011517252.1:p.Arg336= | |
| XM_017015063.1:c.1249A>C | XP_016870552.1:p.Arg417= | |
| XM_024447658.1:c.1237A>C | XP_024303426.1:p.Arg413= | |
| NM_004612.4:c.1444A>C MANE Select | NP_004603.1:p.Arg482= | |
| NM_001130916.3:c.1213A>C | NP_001124388.1:p.Arg405= | |
| NM_001306210.2:c.1456A>C | NP_001293139.1:p.Arg486= |