gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633106G>A , CM000669.2:g.100633106G>A | GRCh38 |
| NC_000007.13:g.100230729G>A , CM000669.1:g.100230729G>A | GRCh37 |
| NC_000007.12:g.100068665G>A | NCBI36 |
| NG_007989.1:g.13445C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.744C>T MANE Select | ENSP00000223051.3:p.Ala248= | |
| ENST00000223051.7:c.744C>T | ENSP00000223051.3:p.Ala248= | |
| ENST00000431692.5:c.744C>T | ENSP00000413905.1:p.Ala248= | |
| ENST00000462107.1:c.744C>T | ENSP00000420525.1:p.Ala248= | |
| ENST00000465294.5:n.749C>T | ||
| ENST00000473374.5:n.194C>T | ||
| ENST00000473571.1:n.198C>T | ||
| ENST00000475011.1:n.273C>T | ||
| ENST00000476304.5:n.365C>T | ||
| NM_001206855.1:c.231C>T | NP_001193784.1:p.Ala77= | |
| NM_003227.3:c.744C>T | NP_003218.2:p.Ala248= | |
| XM_005250553.3:c.744C>T | XP_005250610.1:p.Ala248= | |
| XM_005250554.3:c.744C>T | XP_005250611.1:p.Ala248= | |
| NM_001206855.2:c.231C>T | NP_001193784.1:p.Ala77= | |
| XM_005250553.4:c.744C>T | XP_005250610.1:p.Ala248= | |
| XM_017012573.1:c.744C>T | XP_016868062.1:p.Ala248= | |
| NM_003227.4:c.744C>T MANE Select | NP_003218.2:p.Ala248= | |
| NM_001206855.3:c.231C>T | NP_001193784.1:p.Ala77= |