Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.47577322C>T , CM000668.2:g.47577322C>T | GRCh38 |
| NC_000006.11:g.47545058C>T , CM000668.1:g.47545058C>T | GRCh37 |
| NC_000006.10:g.47653017C>T | NCBI36 |
| NG_008878.1:g.104534C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012120.3:c.903+219C>T MANE Select | NP_036252.1:n.903+219C>T |
| ENST00000359314.5:c.903+219C>T MANE Select | ENSP00000352264.5:n.903+219C>T |
| NM_012120.2:c.903+219C>T | NP_036252.1:n.903+219C>T |
| ENST00000463175.1:n.185+219C>T | |
| XM_005248976.1:c.891+219C>T | XP_005249033.1:n.891+219C>T |
| XM_005248977.2:c.903+219C>T | XP_005249034.1:n.903+219C>T |
| XM_011514449.1:c.756+219C>T | XP_011512751.1:n.756+219C>T |
| XM_011514449.2:c.756+219C>T | XP_011512751.1:n.756+219C>T |
| XM_017010641.1:c.903+219C>T | XP_016866130.1:n.903+219C>T |