Linked Data
ClinVar Variation Id:
2749630
ClinVar RCV Id:
RCV003568536
MyVariant Identifiers:
chr6:g.33132233T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164456T>C , CM000668.2:g.33164456T>C | GRCh38 |
| NC_000006.11:g.33132233T>C , CM000668.1:g.33132233T>C | GRCh37 |
| NC_000006.10:g.33240211T>C | NCBI36 |
| NG_011589.1:g.33013A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.687A>G | ||
| ENST00000341947.7:c.4881A>G MANE Select | ENSP00000339915.2:p.Ser1627= | |
| ENST00000341947.6:c.4881A>G | ENSP00000339915.2:p.Ser1627= | |
| ENST00000361917.5:c.4560A>G | ENSP00000355123.1:p.Ser1520= | |
| ENST00000374708.8:c.4623A>G | ENSP00000363840.4:p.Ser1541= | |
| ENST00000477772.1:n.671A>G | ||
| NM_080679.2:c.4560A>G | NP_542410.2:p.Ser1520= | |
| NM_080680.2:c.4881A>G | NP_542411.2:p.Ser1627= | |
| NM_080681.2:c.4623A>G | NP_542412.2:p.Ser1541= | |
| XM_011514298.1:c.4035A>G | XP_011512600.1:p.Ser1345= | |
| XM_011514299.1:c.4167A>G | XP_011512601.1:p.Ser1389= | |
| XM_011514300.1:c.3987A>G | XP_011512602.1:p.Ser1329= | |
| XM_011514301.1:c.3924A>G | XP_011512603.1:p.Ser1308= | |
| XM_011514302.1:c.3768A>G | XP_011512604.1:p.Ser1256= | |
| XM_011514299.2:c.4167A>G | XP_011512601.1:p.Ser1389= | |
| XM_011514300.2:c.3987A>G | XP_011512602.1:p.Ser1329= | |
| XM_011514302.2:c.3768A>G | XP_011512604.1:p.Ser1256= | |
| XM_017010250.1:c.4881A>G | XP_016865739.1:p.Ser1627= | |
| XM_017010251.2:c.3699A>G | XP_016865740.1:p.Ser1233= | |
| NM_080680.3:c.4881A>G MANE Select | NP_542411.2:p.Ser1627= | |
| NM_080681.3:c.4623A>G | NP_542412.2:p.Ser1541= | |
| NM_080679.3:c.4560A>G | NP_542410.2:p.Ser1520= |