Linked Data
dbSNP Id:
rs782237479
ExAC:
7:130003331 C / A
gnomAD v2:
7-130003331-C-A
gnomAD v4:
7-130363490-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130363490C>A , CM000669.2:g.130363490C>A | GRCh38 |
| NC_000007.13:g.130003331C>A , CM000669.1:g.130003331C>A | GRCh37 |
| NC_000007.12:g.129790567C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474905.6:c.819C>A MANE Select | ENSP00000417314.1:p.Asn273Lys | |
| ENST00000393213.7:c.819C>A | ENSP00000376907.3:p.Asn273Lys | |
| ENST00000431780.6:c.819C>A | ENSP00000393045.2:p.Asn273Lys | |
| ENST00000461828.5:c.819C>A | ENSP00000418183.1:p.Asn273Lys | |
| ENST00000466363.6:c.819C>A | ENSP00000419025.2:p.Asn273Lys | |
| ENST00000474905.5:c.819C>A | ENSP00000417314.1:p.Asn273Lys | |
| ENST00000479492.1:c.50C>A | ||
| ENST00000485477.5:c.819C>A | ENSP00000420237.1:p.Asn273Lys | |
| ENST00000495736.1:n.1041C>A | ||
| NM_001127441.1:c.819C>A | NP_001120913.1:p.Asn273Lys | |
| NM_001127442.1:c.819C>A | NP_001120914.1:p.Asn273Lys | |
| NM_080385.4:c.819C>A | NP_525124.3:p.Asn273Lys | |
| XM_005250710.1:c.819C>A | XP_005250767.1:p.Asn273Lys | |
| XM_005250711.1:c.819C>A | XP_005250768.1:p.Asn273Lys | |
| XM_005250712.1:c.819C>A | XP_005250769.1:p.Asn273Lys | |
| XM_011516698.1:c.819C>A | XP_011515000.1:p.Asn273Lys | |
| XM_011516699.1:c.819C>A | XP_011515001.1:p.Asn273Lys | |
| XM_011516700.1:c.819C>A | XP_011515002.1:p.Asn273Lys | |
| XM_011516701.1:c.819C>A | XP_011515003.1:p.Asn273Lys | |
| XM_011516702.1:c.819C>A | XP_011515004.1:p.Asn273Lys | |
| XM_011516703.1:c.819C>A | XP_011515005.1:p.Asn273Lys | |
| XM_011516704.1:c.819C>A | XP_011515006.1:p.Asn273Lys | |
| XM_011516705.1:c.819C>A | XP_011515007.1:p.Asn273Lys | |
| XR_927548.1:n.2018C>A | ||
| XR_927549.1:n.2018C>A | ||
| XR_927550.1:n.2018C>A | ||
| XR_927551.1:n.2018C>A | ||
| NM_001318223.1:c.819C>A | NP_001305152.1:p.Asn273Lys | |
| XM_024446999.1:c.819C>A | XP_024302767.1:p.Asn273Lys | |
| XM_024447000.1:c.819C>A | XP_024302768.1:p.Asn273Lys | |
| XM_024447001.1:c.819C>A | XP_024302769.1:p.Asn273Lys | |
| NM_001127441.2:c.819C>A | NP_001120913.1:p.Asn273Lys | |
| NM_001127442.2:c.819C>A | NP_001120914.1:p.Asn273Lys | |
| NM_001318223.2:c.819C>A | NP_001305152.1:p.Asn273Lys | |
| NM_080385.5:c.819C>A MANE Select | NP_525124.3:p.Asn273Lys |