Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177353411A>C , CM000666.2:g.177353411A>C | GRCh38 |
| NC_000004.11:g.178274565A>C , CM000666.1:g.178274565A>C | GRCh37 |
| NC_000004.10:g.178511559A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018248.3:c.1143A>C MANE Select | NP_060718.3:p.Arg381Ser |
| ENST00000264596.4:c.1143A>C MANE Select | ENSP00000264596.3:p.Arg381Ser |
| NM_018248.2:c.1143A>C | NP_060718.2:p.Arg381Ser |
| ENST00000264596.3:c.1143A>C | ENSP00000264596.3:p.Arg381Ser |
| ENST00000513321.1:c.*417A>C | ENSP00000424735.1:n.*417A>C |
| XM_017008360.1:c.1143A>C | XP_016863849.1:p.Arg381Ser |
| XR_001741926.1:n.360+3584T>G | |
| XR_939503.1:n.445+3584T>G | |
| XR_939504.1:n.556+3584T>G | |
| XR_939505.1:n.335+3584T>G | |
| XR_939506.1:n.216+3584T>G |