Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837665G>T , CM000685.2:g.154837665G>T | GRCh38 |
| NC_000023.10:g.154065940G>T , CM000685.1:g.154065940G>T | GRCh37 |
| NC_000023.9:g.153719134G>T | NCBI36 |
| NG_011403.1:g.190059C>A | |
| NG_033065.1:g.1998C>A | |
| NG_011403.2:g.190059C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6988C>A MANE Select | ENSP00000353393.4:p.Gln2330Lys | |
| ENST00000644698.1:c.721C>A | ENSP00000495706.1:p.Gln241Lys | |
| ENST00000330287.10:c.583C>A | ENSP00000327895.6:p.Gln195Lys | |
| ENST00000360256.8:c.6988C>A | ENSP00000353393.4:p.Gln2330Lys | |
| NM_000132.3:c.6988C>A | NP_000123.1:p.Gln2330Lys | |
| NM_019863.2:c.583C>A | NP_063916.1:p.Gln195Lys | |
| XM_011531126.1:c.6883C>A | XP_011529428.1:p.Gln2295Lys | |
| NM_000132.4:c.6988C>A MANE Select | NP_000123.1:p.Gln2330Lys | |
| NM_019863.3:c.583C>A | NP_063916.1:p.Gln195Lys |