Linked Data
dbSNP Id:
rs371299248
gnomAD v2:
11-118361966-G-A
gnomAD v3:
11-118491251-G-A
gnomAD v4:
11-118491251-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118491251G>A , CM000673.2:g.118491251G>A | GRCh38 |
| NC_000011.9:g.118361966G>A , CM000673.1:g.118361966G>A | GRCh37 |
| NC_000011.8:g.117867176G>A | NCBI36 |
| NG_027813.1:g.59762G>A , LRG_613:g.59762G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.4851G>A | ENSP00000432391.3:p.Lys1617= | |
| ENST00000710560.1:c.4851G>A | ENSP00000518343.1:p.Lys1617= | |
| ENST00000685498.1:c.528G>A | ENSP00000509293.1:p.Lys176= | |
| ENST00000691053.1:c.4752G>A | ENSP00000509168.1:p.Lys1584= | |
| ENST00000389506.10:c.4752G>A | ENSP00000374157.5:p.Lys1584= | |
| ENST00000534358.8:c.4752G>A MANE Select | ENSP00000436786.2:p.Lys1584= | |
| ENST00000649699.1:c.4638G>A | ENSP00000496927.1:p.Lys1546= | |
| ENST00000389506.9:c.4752G>A | ENSP00000374157.5:p.Lys1584= | |
| ENST00000392873.3:c.888G>A | ENSP00000376612.3:p.Lys296= | |
| ENST00000534358.5:c.4752G>A | ENSP00000436786.1:p.Lys1584= | |
| NM_001197104.1:c.4752G>A , LRG_613t1:c.4752G>A | NP_001184033.1:p.Lys1584= | |
| NM_005933.3:c.4752G>A | NP_005924.2:p.Lys1584= | |
| XM_006718839.2:c.2235G>A | XP_006718902.2:p.Lys745= | |
| XM_011542829.1:c.4851G>A | XP_011541131.1:p.Lys1617= | |
| XM_011542830.1:c.4848G>A | XP_011541132.1:p.Lys1616= | |
| XM_011542831.1:c.4851G>A | XP_011541133.1:p.Lys1617= | |
| XM_011542832.1:c.2658G>A | XP_011541134.1:p.Lys886= | |
| XM_011542833.1:c.2334G>A | XP_011541135.1:p.Lys778= | |
| XM_006718839.3:c.2235G>A | XP_006718902.2:p.Lys745= | |
| XM_011542829.2:c.4851G>A | XP_011541131.1:p.Lys1617= | |
| XM_011542830.2:c.4848G>A | XP_011541132.1:p.Lys1616= | |
| XM_011542831.2:c.4851G>A | XP_011541133.1:p.Lys1617= | |
| XM_011542833.2:c.2334G>A | XP_011541135.1:p.Lys778= | |
| NM_001197104.2:c.4752G>A MANE Select | NP_001184033.1:p.Lys1584= | |
| NM_005933.4:c.4752G>A | NP_005924.2:p.Lys1584= |