Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837609C>G , CM000685.2:g.154837609C>G | GRCh38 |
| NC_000023.10:g.154065884C>G , CM000685.1:g.154065884C>G | GRCh37 |
| NC_000023.9:g.153719078C>G | NCBI36 |
| NG_011403.1:g.190115G>C | |
| NG_033065.1:g.2054G>C | |
| NG_011403.2:g.190115G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.7044G>C MANE Select | NP_000123.1:p.Gln2348His |
| ENST00000360256.9:c.7044G>C MANE Select | ENSP00000353393.4:p.Gln2348His |
| NM_000132.3:c.7044G>C | NP_000123.1:p.Gln2348His |
| NM_019863.2:c.639G>C | NP_063916.1:p.Gln213His |
| NM_019863.3:c.639G>C | NP_063916.1:p.Gln213His |
| ENST00000330287.10:c.639G>C | ENSP00000327895.6:p.Gln213His |
| ENST00000360256.8:c.7044G>C | ENSP00000353393.4:p.Gln2348His |
| ENST00000644698.1:c.777G>C | ENSP00000495706.1:p.Gln259His |
| XM_011531126.1:c.6939G>C | XP_011529428.1:p.Gln2313His |