Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128344430A>C , CM000667.2:g.128344430A>C | GRCh38 |
| NC_000005.9:g.127680122A>C , CM000667.1:g.127680122A>C | GRCh37 |
| NC_000005.8:g.127708021A>C | NCBI36 |
| NG_008750.1:g.198614T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.3298T>G MANE Select | NP_001990.2:p.Cys1100Gly |
| ENST00000262464.9:c.3298T>G MANE Select | ENSP00000262464.4:p.Cys1100Gly |
| NM_001999.3:c.3298T>G | NP_001990.2:p.Cys1100Gly |
| ENST00000262464.8:c.3298T>G | ENSP00000262464.4:p.Cys1100Gly |
| ENST00000508053.5:c.3298T>G | ENSP00000424571.1:p.Cys1100Gly |
| ENST00000508989.5:c.3199T>G | ENSP00000425596.1:p.Cys1067Gly |
| ENST00000619499.4:c.3295T>G | ENSP00000482132.1:p.Cys1099Gly |
| XM_017009228.2:c.3145T>G | XP_016864717.1:p.Cys1049Gly |