Linked Data
ClinVar Variation Id:
994433
dbSNP Id:
rs560350898
ExAC:
6:137147502 C / A
gnomAD v2:
6-137147502-C-A
gnomAD v3:
6-136826364-C-A
gnomAD v4:
6-136826364-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136826364C>A , CM000668.2:g.136826364C>A | GRCh38 |
| NC_000006.11:g.137147502C>A , CM000668.1:g.137147502C>A | GRCh37 |
| NC_000006.10:g.137189195C>A | NCBI36 |
| NG_008462.1:g.8785C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.234C>A MANE Select | ENSP00000315680.3:p.Asn78Lys | |
| ENST00000541292.6:c.234C>A | ENSP00000441004.1:p.Asn78Lys | |
| ENST00000678002.1:c.109C>A | ||
| ENST00000678557.1:c.120C>A | ENSP00000502962.1:p.Asn40Lys | |
| ENST00000678593.1:c.239C>A | ENSP00000503841.1:n.239C>A | |
| ENST00000679286.1:c.114C>A | ENSP00000503168.1:p.Asn38Lys | |
| ENST00000318471.4:c.234C>A | ENSP00000315680.3:p.Asn78Lys | |
| ENST00000367756.8:c.234C>A | ENSP00000356730.4:p.Asn78Lys | |
| ENST00000541292.5:c.234C>A | ENSP00000441004.1:p.Asn78Lys | |
| NM_000288.3:c.234C>A | NP_000279.1:p.Asn78Lys | |
| XM_005267019.3:c.120C>A | XP_005267076.1:p.Asn40Lys | |
| XM_006715502.1:c.234C>A | XP_006715565.1:p.Asn78Lys | |
| XM_011535900.1:c.234C>A | XP_011534202.1:p.Asn78Lys | |
| XM_005267019.4:c.120C>A | XP_005267076.1:p.Asn40Lys | |
| XM_006715502.2:c.234C>A | XP_006715565.1:p.Asn78Lys | |
| XM_017010934.2:c.234C>A | XP_016866423.1:p.Asn78Lys | |
| NM_000288.4:c.234C>A MANE Select | NP_000279.1:p.Asn78Lys |