Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202467547A>C , CM000664.2:g.202467547A>C | GRCh38 |
| NC_000002.11:g.203332270A>C , CM000664.1:g.203332270A>C | GRCh37 |
| NC_000002.10:g.203040515A>C | NCBI36 |
| NG_009363.1:g.96221A>C , LRG_712:g.96221A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001204.7:c.276A>C MANE Select | NP_001195.2:p.Gln92His |
| ENST00000374580.10:c.276A>C MANE Select | ENSP00000363708.4:p.Gln92His |
| NM_001204.6:c.276A>C , LRG_712t1:c.276A>C | NP_001195.2:p.Gln92His |
| ENST00000374574.2:c.276A>C | ENSP00000363702.2:p.Gln92His |
| ENST00000374580.8:c.276A>C | ENSP00000363708.4:p.Gln92His |
| ENST00000479069.1:n.183A>C | |
| ENST00000638587.1:c.207A>C | ENSP00000491062.1:p.Gln69His |
| XM_011511687.1:c.276A>C | XP_011509989.1:p.Gln92His |
| XM_011511688.1:c.276A>C | XP_011509990.1:p.Gln92His |