Linked Data
ClinVar Variation Id:
339961
ClinVar RCV Id:
RCV000302979
dbSNP Id:
rs886057076
gnomAD v2:
21-38139536-C-T
gnomAD v3:
21-36767235-C-T
gnomAD v4:
21-36767235-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36767235C>T , CM000683.2:g.36767235C>T | GRCh38 |
| NC_000021.8:g.38139536C>T , CM000683.1:g.38139536C>T | GRCh37 |
| NC_000021.7:g.37061406C>T | NCBI36 |
| NG_016193.1:g.228001G>A | |
| NG_016193.2:g.228160G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674895.3:c.1943G>A MANE Select | ENSP00000502087.2:p.Arg648Gln | |
| ENST00000674895.2:c.1502G>A | ENSP00000502087.1:p.Arg501Gln | |
| ENST00000675057.1:c.1502G>A | ENSP00000501832.1:p.Arg501Gln | |
| ENST00000675307.1:c.1502G>A | ENSP00000501750.1:p.Arg501Gln | |
| ENST00000336648.8:c.1502G>A | ENSP00000338387.3:p.Arg501Gln | |
| ENST00000399120.5:c.1502G>A | ENSP00000382071.1:p.Arg501Gln | |
| ENST00000612277.4:c.1502G>A | ENSP00000479939.1:p.Arg501Gln | |
| NM_000411.6:c.1502G>A | NP_000402.3:p.Arg501Gln | |
| NM_001242784.1:c.1502G>A | NP_001229713.1:p.Arg501Gln | |
| NM_001242785.1:c.1502G>A | NP_001229714.1:p.Arg501Gln | |
| XM_005260953.2:c.1943G>A | XP_005261010.1:p.Arg648Gln | |
| XM_005260954.1:c.1943G>A | XP_005261011.1:p.Arg648Gln | |
| XM_005260955.2:c.1502G>A | XP_005261012.1:p.Arg501Gln | |
| XM_005260956.2:c.1502G>A | XP_005261013.1:p.Arg501Gln | |
| XM_006723994.1:c.1502G>A | XP_006724057.1:p.Arg501Gln | |
| XM_006723995.1:c.1502G>A | XP_006724058.1:p.Arg501Gln | |
| XM_011529538.1:c.1502G>A | XP_011527840.1:p.Arg501Gln | |
| XM_011529539.1:c.1502G>A | XP_011527841.1:p.Arg501Gln | |
| XM_011529541.1:c.1502G>A | XP_011527843.1:p.Arg501Gln | |
| NM_000411.7:c.1502G>A | NP_000402.3:p.Arg501Gln | |
| NM_001242784.2:c.1502G>A | NP_001229713.1:p.Arg501Gln | |
| NM_001242785.2:c.1502G>A | NP_001229714.1:p.Arg501Gln | |
| NM_001352514.1:c.1943G>A | NP_001339443.1:p.Arg648Gln | |
| NM_001352515.1:c.1502G>A | NP_001339444.1:p.Arg501Gln | |
| NM_001352516.1:c.1502G>A | NP_001339445.1:p.Arg501Gln | |
| NM_001352517.1:c.1502G>A | NP_001339446.1:p.Arg501Gln | |
| NM_001352518.1:c.1502G>A | NP_001339447.1:p.Arg501Gln | |
| NR_148020.1:n.1985G>A | ||
| NR_148021.1:n.1959G>A | ||
| XM_011529539.3:c.1502G>A | XP_011527841.1:p.Arg501Gln | |
| XM_017028330.1:c.1502G>A | XP_016883819.1:p.Arg501Gln | |
| XM_024452065.1:c.1331G>A | XP_024307833.1:p.Arg444Gln | |
| XM_024452066.1:c.1331G>A | XP_024307834.1:p.Arg444Gln | |
| XR_001754835.1:n.1944G>A | ||
| XR_001754836.1:n.1944G>A | ||
| XR_001754837.2:n.1944G>A | ||
| XR_001754840.1:n.1993G>A | ||
| NM_000411.8:c.1502G>A | NP_000402.3:p.Arg501Gln | |
| NM_001242784.3:c.1502G>A | NP_001229713.1:p.Arg501Gln | |
| NM_001352514.2:c.1943G>A MANE Select | NP_001339443.1:p.Arg648Gln | |
| NM_001352515.2:c.1502G>A | NP_001339444.1:p.Arg501Gln | |
| NM_001352516.2:c.1502G>A | NP_001339445.1:p.Arg501Gln | |
| NR_148020.2:n.1802G>A | ||
| NM_001352518.2:c.1502G>A | NP_001339447.1:p.Arg501Gln |