Linked Data
dbSNP Id:
rs577769507
gnomAD v2:
15-38644459-A-C
gnomAD v3:
15-38352258-A-C
gnomAD v4:
15-38352258-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38352258A>C , CM000677.2:g.38352258A>C | GRCh38 |
| NC_000015.9:g.38644459A>C , CM000677.1:g.38644459A>C | GRCh37 |
| NC_000015.8:g.36431751A>C | NCBI36 |
| NG_008980.1:g.104408A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.*594A>C MANE Select | ENSP00000299084.4:n.*594A>C | |
| ENST00000299084.8:c.*594A>C | ENSP00000299084.4:n.*594A>C | |
| NM_152594.2:c.*594A>C | NP_689807.1:n.*594A>C | |
| XM_005254202.2:c.*594A>C | XP_005254259.1:n.*594A>C | |
| XM_005254203.3:c.*594A>C | XP_005254260.1:n.*594A>C | |
| XM_011521288.1:c.*594A>C | XP_011519590.1:n.*594A>C | |
| XM_011521289.1:c.*594A>C | XP_011519591.1:n.*594A>C | |
| XM_011521290.1:c.*594A>C | XP_011519592.1:n.*594A>C | |
| XM_005254202.3:c.*594A>C | XP_005254259.1:n.*594A>C | |
| XM_011521289.3:c.*594A>C | XP_011519591.1:n.*594A>C | |
| NM_152594.3:c.*594A>C MANE Select | NP_689807.1:n.*594A>C |