Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29252157T>C , CM000679.2:g.29252157T>C | GRCh38 |
| NC_000017.10:g.27579175T>C , CM000679.1:g.27579175T>C | GRCh37 |
| NC_000017.9:g.24603301T>C | NCBI36 |
| NG_008037.1:g.10301T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225387.8:c.309T>C MANE Select | ENSP00000225387.3:p.Asn103= | |
| ENST00000225387.7:c.309T>C | ENSP00000225387.3:p.Asn103= | |
| ENST00000484605.1:c.206-1483T>C | ||
| NM_005208.4:c.309T>C | NP_005199.2:p.Asn103= | |
| XM_017024198.1:c.612T>C | XP_016879687.1:p.Asn204= | |
| NM_005208.5:c.309T>C MANE Select | NP_005199.2:p.Asn103= |