MyVariant.info:
GRCh37
chr9:g.94488985C>T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91726703C>T , CM000671.2:g.91726703C>T | GRCh38 |
| NC_000009.11:g.94488985C>T , CM000671.1:g.94488985C>T | GRCh37 |
| NC_000009.10:g.93528806C>T | NCBI36 |
| NG_008089.1:g.228460G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1224G>A MANE Select | ENSP00000364860.3:p.Leu408= | |
| ENST00000375708.3:c.1224G>A | ENSP00000364860.3:p.Leu408= | |
| ENST00000375715.5:c.804G>A | ENSP00000364867.1:p.Leu268= | |
| ENST00000550066.5:n.1692G>A | ||
| NM_004560.3:c.1224G>A | NP_004551.2:p.Leu408= | |
| XM_005252008.3:c.804G>A | XP_005252065.1:p.Leu268= | |
| XM_005252009.3:c.21G>A | XP_005252066.1:p.Leu7= | |
| XM_006717121.2:c.804G>A | XP_006717184.1:p.Leu268= | |
| XM_011518721.1:c.804G>A | XP_011517023.1:p.Leu268= | |
| NM_001318204.1:c.1190G>A | NP_001305133.1:p.Trp397Ter | |
| XM_005252008.4:c.804G>A | XP_005252065.1:p.Leu268= | |
| XM_006717121.3:c.804G>A | XP_006717184.1:p.Leu268= | |
| XM_017014762.1:c.1215G>A | XP_016870251.1:p.Leu405= | |
| XM_017014763.1:c.804G>A | XP_016870252.1:p.Leu268= | |
| XR_001746315.1:n.1433G>A | ||
| NM_004560.4:c.1224G>A MANE Select | NP_004551.2:p.Leu408= | |
| NM_001318204.2:c.1190G>A | NP_001305133.1:p.Trp397Ter |