Linked Data
dbSNP Id:
rs747949893
ExAC:
5:13753596 C / G
gnomAD v2:
5-13753596-C-G
gnomAD v4:
5-13753487-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753487C>G , CM000667.2:g.13753487C>G | GRCh38 |
| NC_000005.9:g.13753596C>G , CM000667.1:g.13753596C>G | GRCh37 |
| NC_000005.8:g.13806596C>G | NCBI36 |
| NG_013081.1:g.195994G>C | |
| NG_013081.2:g.195994G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10618G>C MANE Select | ENSP00000265104.4:p.Asp3540His | |
| ENST00000681290.1:c.10573G>C | ENSP00000505288.1:p.Asp3525His | |
| ENST00000265104.4:c.10618G>C | ENSP00000265104.4:p.Asp3540His | |
| NM_001369.2:c.10618G>C | NP_001360.1:p.Asp3540His | |
| XM_005248262.2:c.10573G>C | XP_005248319.1:p.Asp3525His | |
| XM_005248262.3:c.10726G>C | XP_005248319.2:p.Asp3576His | |
| XM_017009177.1:c.10726G>C | XP_016864666.1:p.Asp3576His | |
| XM_017009178.1:c.9631G>C | XP_016864667.1:p.Asp3211His | |
| XM_017009179.2:c.9631G>C | XP_016864668.1:p.Asp3211His | |
| XM_017009180.1:c.10726G>C | XP_016864669.1:p.Asp3576His | |
| XM_017009181.1:c.10726G>C | XP_016864670.1:p.Asp3576His | |
| XM_017009182.1:c.10726G>C | XP_016864671.1:p.Asp3576His | |
| XM_017009185.1:c.5815G>C | XP_016864674.1:p.Asp1939His | |
| XM_017009186.1:c.5368G>C | XP_016864675.1:p.Asp1790His | |
| XM_017009188.1:c.4705G>C | XP_016864677.1:p.Asp1569His | |
| XM_024454388.1:c.9631G>C | XP_024310156.1:p.Asp3211His | |
| XM_024454389.1:c.9220G>C | XP_024310157.1:p.Asp3074His | |
| NM_001369.3:c.10618G>C MANE Select | NP_001360.1:p.Asp3540His |