Linked Data
dbSNP Id:
rs757627570
ExAC:
17:38245574 G / A
gnomAD v2:
17-38245574-G-A
gnomAD v4:
17-40089321-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40089321G>A , CM000679.2:g.40089321G>A | GRCh38 |
| NC_000017.10:g.38245574G>A , CM000679.1:g.38245574G>A | GRCh37 |
| NC_000017.9:g.35499100G>A | NCBI36 |
| NG_023345.1:g.32129G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450525.7:c.1098G>A MANE Select | ENSP00000395641.3:p.Lys366= | |
| ENST00000264637.8:c.1098G>A | ENSP00000264637.4:p.Lys366= | |
| ENST00000394121.8:c.1098G>A | ENSP00000377679.4:p.Lys366= | |
| ENST00000450525.6:c.1098G>A | ENSP00000395641.2:p.Lys366= | |
| ENST00000546243.5:c.1098G>A | ENSP00000443972.1:p.Lys366= | |
| ENST00000584985.5:c.1098G>A | ENSP00000463466.1:p.Lys366= | |
| NM_001190918.1:c.1098G>A | NP_001177847.1:p.Lys366= | |
| NM_001190919.1:c.1098G>A | NP_001177848.1:p.Lys366= | |
| NM_003250.5:c.1098G>A | NP_003241.2:p.Lys366= | |
| NM_199334.3:c.1098G>A | NP_955366.1:p.Lys366= | |
| NM_001190918.2:c.1098G>A | NP_001177847.1:p.Lys366= | |
| NM_003250.6:c.1098G>A | NP_003241.2:p.Lys366= | |
| NM_199334.5:c.1098G>A MANE Select | NP_955366.1:p.Lys366= | |
| NM_001190919.2:c.1098G>A | NP_001177848.1:p.Lys366= |