Linked Data
ClinVar Variation Id:
2816176
ClinVar RCV Id:
RCV003685748
dbSNP Id:
rs1768897378
gnomAD v4:
6-33164942-G-A
MyVariant Identifiers:
chr6:g.33132719G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164942G>A , CM000668.2:g.33164942G>A | GRCh38 |
| NC_000006.11:g.33132719G>A , CM000668.1:g.33132719G>A | GRCh37 |
| NC_000006.10:g.33240697G>A | NCBI36 |
| NG_011589.1:g.32527C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.579C>T | ||
| ENST00000341947.7:c.4773C>T MANE Select | ENSP00000339915.2:p.Asn1591= | |
| ENST00000341947.6:c.4773C>T | ENSP00000339915.2:p.Asn1591= | |
| ENST00000361917.5:c.4452C>T | ENSP00000355123.1:p.Asn1484= | |
| ENST00000374708.8:c.4515C>T | ENSP00000363840.4:p.Asn1505= | |
| ENST00000477772.1:n.563C>T | ||
| NM_080679.2:c.4452C>T | NP_542410.2:p.Asn1484= | |
| NM_080680.2:c.4773C>T | NP_542411.2:p.Asn1591= | |
| NM_080681.2:c.4515C>T | NP_542412.2:p.Asn1505= | |
| XM_011514298.1:c.3927C>T | XP_011512600.1:p.Asn1309= | |
| XM_011514299.1:c.4059C>T | XP_011512601.1:p.Asn1353= | |
| XM_011514300.1:c.3879C>T | XP_011512602.1:p.Asn1293= | |
| XM_011514301.1:c.3816C>T | XP_011512603.1:p.Asn1272= | |
| XM_011514302.1:c.3660C>T | XP_011512604.1:p.Asn1220= | |
| XM_011514299.2:c.4059C>T | XP_011512601.1:p.Asn1353= | |
| XM_011514300.2:c.3879C>T | XP_011512602.1:p.Asn1293= | |
| XM_011514302.2:c.3660C>T | XP_011512604.1:p.Asn1220= | |
| XM_017010250.1:c.4773C>T | XP_016865739.1:p.Asn1591= | |
| XM_017010251.2:c.3591C>T | XP_016865740.1:p.Asn1197= | |
| NM_080680.3:c.4773C>T MANE Select | NP_542411.2:p.Asn1591= | |
| NM_080681.3:c.4515C>T | NP_542412.2:p.Asn1505= | |
| NM_080679.3:c.4452C>T | NP_542410.2:p.Asn1484= |