Linked Data
dbSNP Id:
rs201767580
ExAC:
11:101344494 C / T
gnomAD v2:
11-101344494-C-T
gnomAD v4:
11-101473763-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101473763C>T , CM000673.2:g.101473763C>T | GRCh38 |
| NC_000011.9:g.101344494C>T , CM000673.1:g.101344494C>T | GRCh37 |
| NC_000011.8:g.100849704C>T | NCBI36 |
| NG_011476.1:g.115166G>A | |
| NG_011476.2:g.115166G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.1755G>A MANE Select | ENSP00000340913.3:p.Lys585= | |
| ENST00000344327.7:c.1755G>A | ENSP00000340913.3:p.Lys585= | |
| ENST00000348423.8:c.1407G>A | ENSP00000343672.4:p.Lys469= | |
| ENST00000360497.4:c.1590G>A | ENSP00000353687.4:p.Lys530= | |
| ENST00000532133.5:c.1521G>A | ENSP00000435574.1:p.Lys507= | |
| NM_004621.5:c.1755G>A | NP_004612.2:p.Lys585= | |
| XM_006718898.2:c.1755G>A | XP_006718961.1:p.Lys585= | |
| XM_011542968.1:c.1590G>A | XP_011541270.1:p.Lys530= | |
| XM_011542969.1:c.1755G>A | XP_011541271.1:p.Lys585= | |
| XM_011542968.3:c.1590G>A | XP_011541270.1:p.Lys530= | |
| XM_017018221.2:c.1407G>A | XP_016873710.1:p.Lys469= | |
| XR_001747948.2:n.2111G>A | ||
| NM_004621.6:c.1755G>A MANE Select | NP_004612.2:p.Lys585= |