Linked Data
ClinVar Variation Id:
97891
dbSNP Id:
rs104895570
ExAC:
19:54301594 G / T
gnomAD v2:
19-54301594-G-T
gnomAD v3:
19-53798340-G-T
gnomAD v4:
19-53798340-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53798340G>T , CM000681.2:g.53798340G>T | GRCh38 |
| NC_000019.9:g.54301594G>T , CM000681.1:g.54301594G>T | GRCh37 |
| NC_000019.8:g.58993406G>T | NCBI36 |
| NG_008651.1:g.31055C>A | |
| NG_008651.2:g.31055C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391773.7:c.2833C>A | ENSP00000375653.1:p.Arg945= | |
| ENST00000324134.11:c.2830C>A MANE Select | ENSP00000319377.6:p.Arg944= | |
| ENST00000391773.6:c.2833C>A | ENSP00000375653.1:p.Arg945= | |
| ENST00000324134.10:c.2830C>A | ENSP00000319377.6:p.Arg944= | |
| ENST00000345770.9:c.2833C>A | ENSP00000341428.5:p.Arg945= | |
| ENST00000391772.1:c.2592-4204C>A | ENSP00000375652.1:n.2592-4204C>A | |
| ENST00000391773.5:c.2833C>A | ENSP00000375653.1:p.Arg945= | |
| ENST00000391775.7:c.2757-2311C>A | ENSP00000375655.3:n.2757-2311C>A | |
| ENST00000492915.1:n.1915-2311C>A | ||
| NM_001277126.1:c.2833C>A | NP_001264055.1:p.Arg945= | |
| NM_001277129.1:c.2757-2311C>A | NP_001264058.1:n.2757-2311C>A | |
| NM_144687.3:c.2830C>A | NP_653288.1:p.Arg944= | |
| XM_011527478.1:c.2665C>A | XP_011525780.1:p.Arg889= | |
| XM_011527479.1:c.2662C>A | XP_011525781.1:p.Arg888= | |
| XM_011527480.1:c.2760-2311C>A | XP_011525782.1:n.2760-2311C>A | |
| XM_011527481.1:c.*38C>A | XP_011525783.1:n.*38C>A | |
| XM_011527482.1:c.2589-2311C>A | XP_011525784.1:n.2589-2311C>A | |
| XM_011527483.1:c.2317C>A | XP_011525785.1:p.Arg773= | |
| XM_017027460.1:c.2833C>A | XP_016882949.1:p.Arg945= | |
| XM_017027461.1:c.2833C>A | XP_016882950.1:p.Arg945= | |
| XM_017027462.1:c.2659C>A | XP_016882951.1:p.Arg887= | |
| XM_017027463.1:c.2416C>A | XP_016882952.1:p.Arg806= | |
| XM_017027464.1:c.2416C>A | XP_016882953.1:p.Arg806= | |
| XM_017027465.1:c.2416C>A | XP_016882954.1:p.Arg806= | |
| XM_017027466.1:c.2416C>A | XP_016882955.1:p.Arg806= | |
| XM_017027467.1:c.2416C>A | XP_016882956.1:p.Arg806= | |
| NM_001277126.2:c.2833C>A | NP_001264055.1:p.Arg945= | |
| NM_144687.4:c.2830C>A MANE Select | NP_653288.1:p.Arg944= |