Linked Data
ClinVar Variation Id:
402672
dbSNP Id:
rs2271613
ExAC:
17:76423097 G / A
gnomAD v2:
17-76423097-G-A
gnomAD v3:
17-78427016-G-A
gnomAD v4:
17-78427016-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78427016G>A , CM000679.2:g.78427016G>A | GRCh38 |
| NC_000017.10:g.76423097G>A , CM000679.1:g.76423097G>A | GRCh37 |
| NC_000017.9:g.73934692G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389840.7:c.12681C>T MANE Select | ENSP00000374490.6:p.Tyr4227= | |
| ENST00000389840.6:c.12681C>T | ENSP00000374490.6:p.Tyr4227= | |
| ENST00000585328.5:c.12666C>T | ENSP00000465516.1:p.Tyr4222= | |
| ENST00000586052.5:n.5842C>T | ||
| ENST00000586850.1:n.213C>T | ||
| ENST00000590227.5:n.2355C>T | ||
| ENST00000591369.5:c.4283C>T | ||
| ENST00000592192.2:n.324C>T | ||
| NM_173628.3:c.12681C>T | NP_775899.3:p.Tyr4227= | |
| XM_011525416.1:c.12693C>T | XP_011523718.1:p.Tyr4231= | |
| XM_011525418.1:c.6060C>T | XP_011523720.1:p.Tyr2020= | |
| XM_011525416.2:c.12693C>T | XP_011523718.1:p.Tyr4231= | |
| XM_017025261.2:c.6027C>T | XP_016880750.1:p.Tyr2009= | |
| XM_024451013.1:c.12549C>T | XP_024306781.1:p.Tyr4183= | |
| NM_173628.4:c.12681C>T MANE Select | NP_775899.3:p.Tyr4227= |