Linked Data
dbSNP Id:
rs2071504
ExAC:
17:7405937 C / T
gnomAD v2:
17-7405937-C-T
gnomAD v3:
17-7502618-C-T
gnomAD v4:
17-7502618-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7502618C>T , CM000679.2:g.7502618C>T | GRCh38 |
| NC_000017.10:g.7405937C>T , CM000679.1:g.7405937C>T | GRCh37 |
| NC_000017.9:g.7346661C>T | NCBI36 |
| NG_027747.1:g.23240C>T | |
| NG_027747.2:g.23240C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617998.6:n.3072C>T | ||
| ENST00000674977.2:c.2673C>T | ENSP00000502190.2:p.Tyr891= | |
| ENST00000576114.1:n.139C>T | ||
| ENST00000617998.4:c.2673C>T | ENSP00000480158.1:p.Tyr891= | |
| ENST00000621442.4:c.2673C>T | ENSP00000483957.1:p.Tyr891= | |
| NM_000937.4:c.2673C>T | NP_000928.1:p.Tyr891= | |
| NM_000937.5:c.2673C>T MANE Select | NP_000928.1:p.Tyr891= |