Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919881T>C , CM000679.2:g.74919881T>C | GRCh38 |
| NC_000017.10:g.72915976T>C , CM000679.1:g.72915976T>C | GRCh37 |
| NC_000017.9:g.70427571T>C | NCBI36 |
| NG_007882.1:g.8376A>G | |
| NG_033062.1:g.607T>C | |
| NG_007882.2:g.8383A>G | |
| NG_033062.2:g.607T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173477.5:c.955A>G MANE Select | NP_775748.2:p.Arg319Gly |
| ENST00000614341.5:c.955A>G MANE Select | ENSP00000480279.1:p.Arg319Gly |
| NM_001282489.2:c.646A>G | NP_001269418.1:p.Arg216Gly |
| NM_001282489.3:c.646A>G | NP_001269418.1:p.Arg216Gly |
| NM_173477.4:c.955A>G | NP_775748.2:p.Arg319Gly |
| ENST00000579243.1:c.*554A>G | ENSP00000462568.1:n.*554A>G |
| ENST00000614341.4:c.955A>G | ENSP00000480279.1:p.Arg319Gly |
| XM_011524296.1:c.646A>G | XP_011522598.1:p.Arg216Gly |
| XM_011524296.2:c.646A>G | XP_011522598.1:p.Arg216Gly |