Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.71774207C>G , CM000665.2:g.71774207C>G | GRCh38 |
| NC_000003.11:g.71823358C>G , CM000665.1:g.71823358C>G | GRCh37 |
| NC_000003.10:g.71906048C>G | NCBI36 |
| NG_008275.1:g.16000G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001126128.2:c.285+238G>C MANE Select | NP_001119600.1:n.285+238G>C |
| ENST00000295619.4:c.285+238G>C MANE Select | ENSP00000295619.3:n.285+238G>C |
| NM_001126128.1:c.285+238G>C | NP_001119600.1:n.285+238G>C |
| NM_021935.3:c.223-1379G>C | NP_068754.1:n.223-1379G>C |
| NM_021935.4:c.223-1379G>C | NP_068754.1:n.223-1379G>C |
| ENST00000295619.3:c.285+238G>C | ENSP00000295619.3:n.285+238G>C |
| ENST00000353065.7:c.223-1379G>C | ENSP00000295618.3:n.223-1379G>C |
| XM_017006974.1:c.225+238G>C | XP_016862463.1:n.225+238G>C |