Linked Data
ClinVar Variation Id:
218097
ClinVar RCV Id:
RCV000202343
dbSNP Id:
rs571537271
ExAC:
3:183585744 C / T
gnomAD v2:
3-183585744-C-T
gnomAD v3:
3-183867956-C-T
gnomAD v4:
3-183867956-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183867956C>T , CM000665.2:g.183867956C>T | GRCh38 |
| NC_000003.11:g.183585744C>T , CM000665.1:g.183585744C>T | GRCh37 |
| NC_000003.10:g.185068438C>T | NCBI36 |
| NG_046164.1:g.21950G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317096.9:c.230G>A MANE Select | ENSP00000325421.5:p.Ser77Asn | |
| ENST00000638817.1:c.230G>A | ENSP00000492596.1:p.Ser77Asn | |
| ENST00000639100.1:c.-464G>A | ENSP00000491186.1:n.-464G>A | |
| ENST00000639401.1:c.230G>A | ENSP00000491227.1:p.Ser77Asn | |
| ENST00000639900.1:c.230G>A | ENSP00000491109.1:p.Ser77Asn | |
| ENST00000311101.9:c.230G>A | ENSP00000310676.5:p.Ser77Asn | |
| ENST00000317096.8:c.230G>A | ENSP00000325421.4:p.Ser77Asn | |
| ENST00000421484.5:c.230G>A | ENSP00000404421.1:p.Ser77Asn | |
| ENST00000435888.5:c.230G>A | ENSP00000402137.1:p.Ser77Asn | |
| ENST00000449306.1:c.111G>A | ||
| ENST00000469056.1:n.152G>A | ||
| NM_001037639.1:c.230G>A | NP_001032728.1:p.Ser77Asn | |
| NM_018622.5:c.230G>A | NP_061092.3:p.Ser77Asn | |
| XM_005247582.3:c.230G>A | XP_005247639.1:p.Ser77Asn | |
| XM_005247584.3:c.230G>A | XP_005247641.1:p.Ser77Asn | |
| NM_001037639.2:c.230G>A | NP_001032728.1:p.Ser77Asn | |
| NM_001324436.1:c.230G>A | NP_001311365.1:p.Ser77Asn | |
| NM_001324437.1:c.230G>A | NP_001311366.1:p.Ser77Asn | |
| NM_001324438.1:c.230G>A | NP_001311367.1:p.Ser77Asn | |
| NM_018622.6:c.230G>A | NP_061092.3:p.Ser77Asn | |
| NR_136893.1:n.292G>A | ||
| XM_005247582.5:c.230G>A | XP_005247639.1:p.Ser77Asn | |
| XM_017006800.2:c.230G>A | XP_016862289.1:p.Ser77Asn | |
| XM_017006801.1:c.230G>A | XP_016862290.1:p.Ser77Asn | |
| XM_017006802.1:c.230G>A | XP_016862291.1:p.Ser77Asn | |
| XM_017006803.1:c.-400G>A | XP_016862292.1:n.-400G>A | |
| XM_024453628.1:c.-344G>A | XP_024309396.1:n.-344G>A | |
| XM_024453630.1:c.-464G>A | XP_024309398.1:n.-464G>A | |
| XM_024453631.1:c.-520G>A | XP_024309399.1:n.-520G>A | |
| XM_024453632.1:c.-520G>A | XP_024309400.1:n.-520G>A | |
| XM_024453633.1:c.-464G>A | XP_024309401.1:n.-464G>A | |
| NM_001037639.3:c.230G>A | NP_001032728.1:p.Ser77Asn | |
| NM_001324436.2:c.230G>A | NP_001311365.1:p.Ser77Asn | |
| NM_001324437.2:c.230G>A | NP_001311366.1:p.Ser77Asn | |
| NM_001324438.2:c.230G>A | NP_001311367.1:p.Ser77Asn | |
| NM_018622.7:c.230G>A MANE Select | NP_061092.3:p.Ser77Asn | |
| NR_136893.2:n.264G>A |