Linked Data
ClinVar Variation Id:
2119941
ClinVar RCV Id:
RCV003059133
gnomAD v4:
6-33164894-T-C
MyVariant Identifiers:
chr6:g.33132671T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164894T>C , CM000668.2:g.33164894T>C | GRCh38 |
| NC_000006.11:g.33132671T>C , CM000668.1:g.33132671T>C | GRCh37 |
| NC_000006.10:g.33240649T>C | NCBI36 |
| NG_011589.1:g.32575A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.627A>G | ||
| ENST00000341947.7:c.4821A>G MANE Select | ENSP00000339915.2:p.Ala1607= | |
| ENST00000341947.6:c.4821A>G | ENSP00000339915.2:p.Ala1607= | |
| ENST00000361917.5:c.4500A>G | ENSP00000355123.1:p.Ala1500= | |
| ENST00000374708.8:c.4563A>G | ENSP00000363840.4:p.Ala1521= | |
| ENST00000477772.1:n.611A>G | ||
| NM_080679.2:c.4500A>G | NP_542410.2:p.Ala1500= | |
| NM_080680.2:c.4821A>G | NP_542411.2:p.Ala1607= | |
| NM_080681.2:c.4563A>G | NP_542412.2:p.Ala1521= | |
| XM_011514298.1:c.3975A>G | XP_011512600.1:p.Ala1325= | |
| XM_011514299.1:c.4107A>G | XP_011512601.1:p.Ala1369= | |
| XM_011514300.1:c.3927A>G | XP_011512602.1:p.Ala1309= | |
| XM_011514301.1:c.3864A>G | XP_011512603.1:p.Ala1288= | |
| XM_011514302.1:c.3708A>G | XP_011512604.1:p.Ala1236= | |
| XM_011514299.2:c.4107A>G | XP_011512601.1:p.Ala1369= | |
| XM_011514300.2:c.3927A>G | XP_011512602.1:p.Ala1309= | |
| XM_011514302.2:c.3708A>G | XP_011512604.1:p.Ala1236= | |
| XM_017010250.1:c.4821A>G | XP_016865739.1:p.Ala1607= | |
| XM_017010251.2:c.3639A>G | XP_016865740.1:p.Ala1213= | |
| NM_080680.3:c.4821A>G MANE Select | NP_542411.2:p.Ala1607= | |
| NM_080681.3:c.4563A>G | NP_542412.2:p.Ala1521= | |
| NM_080679.3:c.4500A>G | NP_542410.2:p.Ala1500= |