Linked Data
ClinVar Variation Id:
227260
ClinVar RCV Id:
RCV000219751
RCV000389556
RCV000261045
RCV000374335
RCV000295481
RCV000659335
RCV001513105
dbSNP Id:
rs182657680
ExAC:
6:33146760 C / G
gnomAD v2:
6-33146760-C-G
gnomAD v3:
6-33178983-C-G
gnomAD v4:
6-33178983-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33178983C>G , CM000668.2:g.33178983C>G | GRCh38 |
| NC_000006.11:g.33146760C>G , CM000668.1:g.33146760C>G | GRCh37 |
| NC_000006.10:g.33254738C>G | NCBI36 |
| NG_011589.1:g.18486G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.239-10G>C | ||
| ENST00000341947.7:c.1612-10G>C MANE Select | ENSP00000339915.2:n.1612-10G>C | |
| ENST00000341947.6:c.1612-10G>C | ENSP00000339915.2:n.1612-10G>C | |
| ENST00000361917.5:c.1291-10G>C | ENSP00000355123.1:n.1291-10G>C | |
| ENST00000374708.8:c.1354-10G>C | ENSP00000363840.4:n.1354-10G>C | |
| ENST00000457788.5:c.1612-10G>C | ENSP00000405520.1:n.1612-10G>C | |
| NM_080679.2:c.1291-10G>C | NP_542410.2:n.1291-10G>C | |
| NM_080680.2:c.1612-10G>C | NP_542411.2:n.1612-10G>C | |
| NM_080681.2:c.1354-10G>C | NP_542412.2:n.1354-10G>C | |
| XM_011514298.1:c.766-10G>C | XP_011512600.1:n.766-10G>C | |
| XM_011514299.1:c.898-10G>C | XP_011512601.1:n.898-10G>C | |
| XM_011514300.1:c.718-10G>C | XP_011512602.1:n.718-10G>C | |
| XM_011514301.1:c.655-10G>C | XP_011512603.1:n.655-10G>C | |
| XM_011514302.1:c.499-10G>C | XP_011512604.1:n.499-10G>C | |
| XM_011514299.2:c.898-10G>C | XP_011512601.1:n.898-10G>C | |
| XM_011514300.2:c.718-10G>C | XP_011512602.1:n.718-10G>C | |
| XM_011514302.2:c.499-10G>C | XP_011512604.1:n.499-10G>C | |
| XM_017010250.1:c.1612-10G>C | XP_016865739.1:n.1612-10G>C | |
| XM_017010251.2:c.430-10G>C | XP_016865740.1:n.430-10G>C | |
| NM_080680.3:c.1612-10G>C MANE Select | NP_542411.2:n.1612-10G>C | |
| NM_080681.3:c.1354-10G>C | NP_542412.2:n.1354-10G>C | |
| NM_080679.3:c.1291-10G>C | NP_542410.2:n.1291-10G>C |