Linked Data
dbSNP Id:
rs760119677
ExAC:
15:58302869 A / G
gnomAD v2:
15-58302869-A-G
gnomAD v4:
15-58010671-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58010671A>G , CM000677.2:g.58010671A>G | GRCh38 |
| NC_000015.9:g.58302869A>G , CM000677.1:g.58302869A>G | GRCh37 |
| NC_000015.8:g.56090161A>G | NCBI36 |
| NG_012259.1:g.60038T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249750.9:c.471T>C MANE Select | ENSP00000249750.4:p.Ile157= | |
| ENST00000249750.8:c.471T>C | ENSP00000249750.4:p.Ile157= | |
| ENST00000347587.7:c.471T>C | ENSP00000309623.3:p.Ile157= | |
| ENST00000430119.6:c.*445T>C | ENSP00000416754.2:n.*445T>C | |
| ENST00000537372.5:c.408T>C | ENSP00000438296.1:p.Ile136= | |
| ENST00000558231.5:c.384T>C | ENSP00000453600.1:p.Ile128= | |
| ENST00000559266.5:n.318+3187T>C | ||
| ENST00000559517.5:c.183T>C | ENSP00000453408.1:p.Ile61= | |
| ENST00000561070.5:c.183T>C | ENSP00000452850.1:p.Ile61= | |
| NM_001206897.1:c.408T>C | NP_001193826.1:p.Ile136= | |
| NM_003888.3:c.471T>C | NP_003879.2:p.Ile157= | |
| NM_170696.2:c.471T>C | NP_733797.1:p.Ile157= | |
| NM_170697.2:c.183T>C | NP_733798.1:p.Ile61= | |
| XM_024450095.1:c.471T>C | XP_024305863.1:p.Ile157= | |
| NM_003888.4:c.471T>C MANE Select | NP_003879.2:p.Ile157= | |
| NM_170696.3:c.471T>C | NP_733797.1:p.Ile157= | |
| NM_170697.3:c.183T>C | NP_733798.1:p.Ile61= | |
| NM_001206897.2:c.408T>C | NP_001193826.1:p.Ile136= |