Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71453721G>C , CM000664.2:g.71453721G>C | GRCh38 |
| NC_000002.11:g.71680851G>C , CM000664.1:g.71680851G>C | GRCh37 |
| NC_000002.10:g.71534359G>C | NCBI36 |
| NG_008694.1:g.5099G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003494.4:c.-278G>C MANE Plus Clinical | NP_003485.1:n.-278G>C |
| ENST00000258104.8:c.-278G>C MANE Plus Clinical | ENSP00000258104.3:n.-278G>C |
| NM_001130976.1:c.-278G>C | NP_001124448.1:n.-278G>C |
| NM_001130976.2:c.-278G>C | NP_001124448.1:n.-278G>C |
| NM_001130977.1:c.-278G>C | NP_001124449.1:n.-278G>C |
| NM_001130977.2:c.-278G>C | NP_001124449.1:n.-278G>C |
| NM_001130978.1:c.-278G>C | NP_001124450.1:n.-278G>C |
| NM_001130978.2:c.-278G>C | NP_001124450.1:n.-278G>C |
| NM_001130979.1:c.-278G>C | NP_001124451.1:n.-278G>C |
| NM_001130979.2:c.-278G>C | NP_001124451.1:n.-278G>C |
| NM_001130980.1:c.-278G>C | NP_001124452.1:n.-278G>C |
| NM_001130980.2:c.-278G>C | NP_001124452.1:n.-278G>C |
| NM_001130981.1:c.-278G>C | NP_001124453.1:n.-278G>C |
| NM_001130981.2:c.-278G>C | NP_001124453.1:n.-278G>C |
| NM_003494.3:c.-278G>C | NP_003485.1:n.-278G>C |
| XM_005264585.3:c.-278G>C | XP_005264642.1:n.-278G>C |
| XM_005264585.5:c.-278G>C | XP_005264642.1:n.-278G>C |