Linked Data
dbSNP Id:
rs2138123304
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48368564G>C , CM000675.2:g.48368564G>C | GRCh38 |
| NC_000013.10:g.48942700G>C , CM000675.1:g.48942700G>C | GRCh37 |
| NC_000013.9:g.47840701G>C | NCBI36 |
| NG_009009.1:g.69818G>C , LRG_517:g.69818G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1087G>C MANE Select | ENSP00000267163.4:p.Asp363His | |
| ENST00000650461.1:c.1087G>C | ENSP00000497193.1:p.Asp363His | |
| ENST00000267163.4:c.1087G>C | ENSP00000267163.4:p.Asp363His | |
| NM_000321.2:c.1087G>C , LRG_517t1:c.1087G>C | NP_000312.2:p.Asp363His | |
| XM_011535171.1:c.826G>C | XP_011533473.1:p.Asp276His | |
| XM_011535171.2:c.826G>C | XP_011533473.1:p.Asp276His | |
| XR_002957522.1:n.122-3588C>G | ||
| NM_000321.3:c.1087G>C MANE Select | NP_000312.2:p.Asp363His |