Linked Data
ClinVar Variation Id:
2725714
ClinVar RCV Id:
RCV003554689
MyVariant Identifiers:
chr6:g.33132668C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164891C>G , CM000668.2:g.33164891C>G | GRCh38 |
| NC_000006.11:g.33132668C>G , CM000668.1:g.33132668C>G | GRCh37 |
| NC_000006.10:g.33240646C>G | NCBI36 |
| NG_011589.1:g.32578G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.630G>C | ||
| ENST00000341947.7:c.4824G>C MANE Select | ENSP00000339915.2:p.Gly1608= | |
| ENST00000341947.6:c.4824G>C | ENSP00000339915.2:p.Gly1608= | |
| ENST00000361917.5:c.4503G>C | ENSP00000355123.1:p.Gly1501= | |
| ENST00000374708.8:c.4566G>C | ENSP00000363840.4:p.Gly1522= | |
| ENST00000477772.1:n.614G>C | ||
| NM_080679.2:c.4503G>C | NP_542410.2:p.Gly1501= | |
| NM_080680.2:c.4824G>C | NP_542411.2:p.Gly1608= | |
| NM_080681.2:c.4566G>C | NP_542412.2:p.Gly1522= | |
| XM_011514298.1:c.3978G>C | XP_011512600.1:p.Gly1326= | |
| XM_011514299.1:c.4110G>C | XP_011512601.1:p.Gly1370= | |
| XM_011514300.1:c.3930G>C | XP_011512602.1:p.Gly1310= | |
| XM_011514301.1:c.3867G>C | XP_011512603.1:p.Gly1289= | |
| XM_011514302.1:c.3711G>C | XP_011512604.1:p.Gly1237= | |
| XM_011514299.2:c.4110G>C | XP_011512601.1:p.Gly1370= | |
| XM_011514300.2:c.3930G>C | XP_011512602.1:p.Gly1310= | |
| XM_011514302.2:c.3711G>C | XP_011512604.1:p.Gly1237= | |
| XM_017010250.1:c.4824G>C | XP_016865739.1:p.Gly1608= | |
| XM_017010251.2:c.3642G>C | XP_016865740.1:p.Gly1214= | |
| NM_080680.3:c.4824G>C MANE Select | NP_542411.2:p.Gly1608= | |
| NM_080681.3:c.4566G>C | NP_542412.2:p.Gly1522= | |
| NM_080679.3:c.4503G>C | NP_542410.2:p.Gly1501= |