Linked Data
ClinVar Variation Id:
16239
ClinVar RCV Id:
RCV000017626
dbSNP Id:
rs17855739
ExAC:
19:5831840 C / T
gnomAD v2:
19-5831840-C-T
gnomAD v3:
19-5831829-C-T
gnomAD v4:
19-5831829-C-T
PubMed:
PMID:8175676
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.5831829C>T , CM000681.2:g.5831829C>T | GRCh38 |
| NC_000019.9:g.5831840C>T , CM000681.1:g.5831840C>T | GRCh37 |
| NC_000019.8:g.5782840C>T | NCBI36 |
| NG_007505.1:g.12903G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318336.10:c.739G>A MANE Select | ENSP00000313398.4:p.Glu247Lys | |
| ENST00000286955.5:c.739G>A | ENSP00000286955.5:p.Glu247Lys | |
| ENST00000318336.8:c.739G>A | ENSP00000313398.4:p.Glu247Lys | |
| ENST00000524754.1:c.739G>A | ENSP00000431708.1:p.Glu247Lys | |
| ENST00000527106.5:c.739G>A | ENSP00000432954.1:p.Glu247Lys | |
| ENST00000592563.1:c.739G>A | ENSP00000466016.1:p.Glu247Lys | |
| NM_000150.2:c.739G>A | NP_000141.1:p.Glu247Lys | |
| NM_001040701.1:c.739G>A | NP_001035791.1:p.Glu247Lys | |
| XM_005259526.3:c.739G>A | XP_005259583.1:p.Glu247Lys | |
| XM_005259527.3:c.739G>A | XP_005259584.1:p.Glu247Lys | |
| XM_011527868.1:c.739G>A | XP_011526170.1:p.Glu247Lys | |
| XM_011527869.1:c.739G>A | XP_011526171.1:p.Glu247Lys | |
| XM_011527870.1:c.739G>A | XP_011526172.1:p.Glu247Lys | |
| XM_011527871.1:c.739G>A | XP_011526173.1:p.Glu247Lys | |
| XM_011527872.1:c.739G>A | XP_011526174.1:p.Glu247Lys | |
| XM_011527873.1:c.739G>A | XP_011526175.1:p.Glu247Lys | |
| XM_011527874.1:c.739G>A | XP_011526176.1:p.Glu247Lys | |
| XM_011527875.1:c.739G>A | XP_011526177.1:p.Glu247Lys | |
| XM_011527876.1:c.739G>A | XP_011526178.1:p.Glu247Lys | |
| XM_011527877.1:c.739G>A | XP_011526179.1:p.Glu247Lys | |
| XM_011527878.1:c.739G>A | XP_011526180.1:p.Glu247Lys | |
| XM_011527879.1:c.739G>A | XP_011526181.1:p.Glu247Lys | |
| XM_005259526.5:c.739G>A | XP_005259583.1:p.Glu247Lys | |
| XM_005259527.4:c.739G>A | XP_005259584.1:p.Glu247Lys | |
| XM_011527872.3:c.739G>A | XP_011526174.1:p.Glu247Lys | |
| XM_011527874.3:c.739G>A | XP_011526176.1:p.Glu247Lys | |
| XM_011527875.3:c.739G>A | XP_011526177.1:p.Glu247Lys | |
| XM_011527876.3:c.739G>A | XP_011526178.1:p.Glu247Lys | |
| XM_011527879.3:c.739G>A | XP_011526181.1:p.Glu247Lys | |
| NM_001369502.1:c.739G>A | NP_001356431.1:p.Glu247Lys | |
| NM_001369504.1:c.739G>A | NP_001356433.1:p.Glu247Lys | |
| NM_001369505.1:c.739G>A | NP_001356434.1:p.Glu247Lys | |
| NM_000150.4:c.739G>A MANE Select | NP_000141.1:p.Glu247Lys | |
| NM_001040701.2:c.739G>A | NP_001035791.1:p.Glu247Lys | |
| NM_001381955.1:c.739G>A | NP_001368884.1:p.Glu247Lys | |
| NM_001381956.1:c.739G>A | NP_001368885.1:p.Glu247Lys | |
| NM_001381957.1:c.739G>A | NP_001368886.1:p.Glu247Lys | |
| NM_001381958.1:c.739G>A | NP_001368887.1:p.Glu247Lys | |
| NM_001381959.1:c.739G>A | NP_001368888.1:p.Glu247Lys |