Linked Data
dbSNP Id:
rs758628535
ExAC:
15:40308842 G / C
gnomAD v2:
15-40308842-G-C
gnomAD v4:
15-40016641-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40016641G>C , CM000677.2:g.40016641G>C | GRCh38 |
| NC_000015.9:g.40308842G>C , CM000677.1:g.40308842G>C | GRCh37 |
| NC_000015.8:g.38096134G>C | NCBI36 |
| NG_034053.1:g.87518G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263791.10:c.3899G>C MANE Select | ENSP00000263791.5:p.Gly1300Ala | |
| ENST00000263791.9:c.3899G>C | ENSP00000263791.5:p.Gly1300Ala | |
| ENST00000558557.1:n.923-467G>C | ||
| ENST00000558629.5:n.2816G>C | ||
| ENST00000560855.5:c.3231G>C | ||
| NM_001013703.3:c.3899G>C | NP_001013725.2:p.Gly1300Ala | |
| XM_005254392.1:c.3899G>C | XP_005254449.1:p.Gly1300Ala | |
| XM_011521599.1:c.3899G>C | XP_011519901.1:p.Gly1300Ala | |
| XM_011521600.1:c.3760-467G>C | XP_011519902.1:n.3760-467G>C | |
| XM_005254392.3:c.3899G>C | XP_005254449.1:p.Gly1300Ala | |
| XM_011521599.2:c.3899G>C | XP_011519901.1:p.Gly1300Ala | |
| XM_011521600.3:c.3760-467G>C | XP_011519902.1:n.3760-467G>C | |
| XM_017022219.2:c.3760-467G>C | XP_016877708.1:n.3760-467G>C | |
| NM_001013703.4:c.3899G>C MANE Select | NP_001013725.2:p.Gly1300Ala |