Linked Data
ClinVar Variation Id:
178812
ClinVar RCV Id:
RCV000155584
RCV000261111
RCV000301208
RCV000353712
RCV000368741
RCV000477787
RCV001651028
RCV003907479
dbSNP Id:
rs727504460
ExAC:
6:33136324 T / C
gnomAD v2:
6-33136324-T-C
gnomAD v3:
6-33168547-T-C
gnomAD v4:
6-33168547-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33168547T>C , CM000668.2:g.33168547T>C | GRCh38 |
| NC_000006.11:g.33136324T>C , CM000668.1:g.33136324T>C | GRCh37 |
| NC_000006.10:g.33244302T>C | NCBI36 |
| NG_011589.1:g.28922A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341947.7:c.3932A>G MANE Select | ENSP00000339915.2:p.Asn1311Ser | |
| ENST00000341947.6:c.3932A>G | ENSP00000339915.2:p.Asn1311Ser | |
| ENST00000361917.5:c.3611A>G | ENSP00000355123.1:p.Asn1204Ser | |
| ENST00000374708.8:c.3674A>G | ENSP00000363840.4:p.Asn1225Ser | |
| ENST00000477772.1:n.273-2731A>G | ||
| NM_080679.2:c.3611A>G | NP_542410.2:p.Asn1204Ser | |
| NM_080680.2:c.3932A>G | NP_542411.2:p.Asn1311Ser | |
| NM_080681.2:c.3674A>G | NP_542412.2:p.Asn1225Ser | |
| XM_011514298.1:c.3086A>G | XP_011512600.1:p.Asn1029Ser | |
| XM_011514299.1:c.3218A>G | XP_011512601.1:p.Asn1073Ser | |
| XM_011514300.1:c.3038A>G | XP_011512602.1:p.Asn1013Ser | |
| XM_011514301.1:c.2975A>G | XP_011512603.1:p.Asn992Ser | |
| XM_011514302.1:c.2819A>G | XP_011512604.1:p.Asn940Ser | |
| XM_011514299.2:c.3218A>G | XP_011512601.1:p.Asn1073Ser | |
| XM_011514300.2:c.3038A>G | XP_011512602.1:p.Asn1013Ser | |
| XM_011514302.2:c.2819A>G | XP_011512604.1:p.Asn940Ser | |
| XM_017010250.1:c.3932A>G | XP_016865739.1:p.Asn1311Ser | |
| XM_017010251.2:c.2750A>G | XP_016865740.1:p.Asn917Ser | |
| NM_080680.3:c.3932A>G MANE Select | NP_542411.2:p.Asn1311Ser | |
| NM_080681.3:c.3674A>G | NP_542412.2:p.Asn1225Ser | |
| NM_080679.3:c.3611A>G | NP_542410.2:p.Asn1204Ser |