Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716570A>C , CM000667.2:g.14716570A>C | GRCh38 |
| NC_000005.9:g.14716679A>C , CM000667.1:g.14716679A>C | GRCh37 |
| NC_000005.8:g.14769679A>C | NCBI36 |
| NG_008273.1:g.160209T>G | |
| NG_008273.2:g.160216T>G | |
| NG_051625.1:g.60777A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1141+136T>G MANE Select | ENSP00000284268.6:n.1141+136T>G | |
| ENST00000284268.6:c.1141+136T>G | ENSP00000284268.6:n.1141+136T>G | |
| ENST00000502585.1:n.383+136T>G | ||
| NM_054027.4:c.1141+136T>G | NP_473368.1:n.1141+136T>G | |
| NM_054027.5:c.1141+136T>G | NP_473368.1:n.1141+136T>G | |
| XM_017009644.2:c.1057+136T>G | XP_016865133.1:n.1057+136T>G | |
| NM_054027.6:c.1141+136T>G MANE Select | NP_473368.1:n.1141+136T>G |