Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49132639G>T , CM000665.2:g.49132639G>T | GRCh38 |
| NC_000003.11:g.49170072G>T , CM000665.1:g.49170072G>T | GRCh37 |
| NC_000003.10:g.49145076G>T | NCBI36 |
| NG_008094.1:g.5528C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002292.4:c.101C>A MANE Select | NP_002283.3:p.Ala34Asp |
| ENST00000305544.9:c.101C>A MANE Select | ENSP00000307156.4:p.Ala34Asp |
| NM_002292.3:c.101C>A | NP_002283.3:p.Ala34Asp |
| ENST00000305544.8:c.101C>A | ENSP00000307156.4:p.Ala34Asp |
| ENST00000418109.5:c.101C>A | ENSP00000388325.1:p.Ala34Asp |
| ENST00000494831.1:c.-28+316C>A | ENSP00000444751.1:n.-28+316C>A |
| XM_005265127.3:c.101C>A | XP_005265184.1:p.Ala34Asp |
| XM_005265127.4:c.101C>A | XP_005265184.1:p.Ala34Asp |