Linked Data
ClinVar Variation Id:
226535
ClinVar RCV Id:
RCV000220826
RCV000287064
RCV000322230
RCV000342166
RCV000376785
RCV001521759
RCV001582723
RCV001582724
dbSNP Id:
rs1799911
ExAC:
6:33138677 G / A
gnomAD v2:
6-33138677-G-A
gnomAD v3:
6-33170900-G-A
gnomAD v4:
6-33170900-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33170900G>A , CM000668.2:g.33170900G>A | GRCh38 |
| NC_000006.11:g.33138677G>A , CM000668.1:g.33138677G>A | GRCh37 |
| NC_000006.10:g.33246655G>A | NCBI36 |
| NG_011589.1:g.26569C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341947.7:c.3384C>T MANE Select | ENSP00000339915.2:p.Pro1128= | |
| ENST00000341947.6:c.3384C>T | ENSP00000339915.2:p.Pro1128= | |
| ENST00000361917.5:c.3063C>T | ENSP00000355123.1:p.Pro1021= | |
| ENST00000374708.8:c.3126C>T | ENSP00000363840.4:p.Pro1042= | |
| ENST00000477772.1:n.273-5084C>T | ||
| NM_080679.2:c.3063C>T | NP_542410.2:p.Pro1021= | |
| NM_080680.2:c.3384C>T | NP_542411.2:p.Pro1128= | |
| NM_080681.2:c.3126C>T | NP_542412.2:p.Pro1042= | |
| XM_011514298.1:c.2538C>T | XP_011512600.1:p.Pro846= | |
| XM_011514299.1:c.2670C>T | XP_011512601.1:p.Pro890= | |
| XM_011514300.1:c.2490C>T | XP_011512602.1:p.Pro830= | |
| XM_011514301.1:c.2427C>T | XP_011512603.1:p.Pro809= | |
| XM_011514302.1:c.2271C>T | XP_011512604.1:p.Pro757= | |
| XM_011514299.2:c.2670C>T | XP_011512601.1:p.Pro890= | |
| XM_011514300.2:c.2490C>T | XP_011512602.1:p.Pro830= | |
| XM_011514302.2:c.2271C>T | XP_011512604.1:p.Pro757= | |
| XM_017010250.1:c.3384C>T | XP_016865739.1:p.Pro1128= | |
| XM_017010251.2:c.2202C>T | XP_016865740.1:p.Pro734= | |
| NM_080680.3:c.3384C>T MANE Select | NP_542411.2:p.Pro1128= | |
| NM_080681.3:c.3126C>T | NP_542412.2:p.Pro1042= | |
| NM_080679.3:c.3063C>T | NP_542410.2:p.Pro1021= |