Linked Data
dbSNP Id:
rs771590987
ExAC:
19:18896617 T / G
gnomAD v2:
19-18896617-T-G
gnomAD v4:
19-18785807-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785807T>G , CM000681.2:g.18785807T>G | GRCh38 |
| NC_000019.9:g.18896617T>G , CM000681.1:g.18896617T>G | GRCh37 |
| NC_000019.8:g.18757617T>G | NCBI36 |
| NG_007070.1:g.10498A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1534A>C MANE Select | ENSP00000222271.2:p.Lys512Gln | |
| ENST00000222271.6:c.1534A>C | ENSP00000222271.2:p.Lys512Gln | |
| ENST00000425807.1:c.1375A>C | ENSP00000403792.1:p.Lys459Gln | |
| ENST00000542601.6:c.1435A>C | ENSP00000439156.2:p.Lys479Gln | |
| NM_000095.2:c.1534A>C | NP_000086.2:p.Lys512Gln | |
| NM_000095.3:c.1534A>C MANE Select | NP_000086.2:p.Lys512Gln |