Linked Data
ClinVar Variation Id:
2738772
ClinVar RCV Id:
RCV003562735
dbSNP Id:
rs1238212621
gnomAD v2:
6-33138933-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33171156T>C , CM000668.2:g.33171156T>C | GRCh38 |
| NC_000006.11:g.33138933T>C , CM000668.1:g.33138933T>C | GRCh37 |
| NC_000006.10:g.33246911T>C | NCBI36 |
| NG_011589.1:g.26313A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3324A>G MANE Select | ENSP00000339915.2:p.Gly1108= | |
| ENST00000341947.6:c.3324A>G | ENSP00000339915.2:p.Gly1108= | |
| ENST00000361917.5:c.3003A>G | ENSP00000355123.1:p.Gly1001= | |
| ENST00000374708.8:c.3066A>G | ENSP00000363840.4:p.Gly1022= | |
| ENST00000477772.1:n.273-5340A>G | ||
| NM_080679.2:c.3003A>G | NP_542410.2:p.Gly1001= | |
| NM_080680.2:c.3324A>G | NP_542411.2:p.Gly1108= | |
| NM_080681.2:c.3066A>G | NP_542412.2:p.Gly1022= | |
| XM_011514298.1:c.2478A>G | XP_011512600.1:p.Gly826= | |
| XM_011514299.1:c.2610A>G | XP_011512601.1:p.Gly870= | |
| XM_011514300.1:c.2430A>G | XP_011512602.1:p.Gly810= | |
| XM_011514301.1:c.2367A>G | XP_011512603.1:p.Gly789= | |
| XM_011514302.1:c.2211A>G | XP_011512604.1:p.Gly737= | |
| XM_011514299.2:c.2610A>G | XP_011512601.1:p.Gly870= | |
| XM_011514300.2:c.2430A>G | XP_011512602.1:p.Gly810= | |
| XM_011514302.2:c.2211A>G | XP_011512604.1:p.Gly737= | |
| XM_017010250.1:c.3324A>G | XP_016865739.1:p.Gly1108= | |
| XM_017010251.2:c.2142A>G | XP_016865740.1:p.Gly714= | |
| NM_080680.3:c.3324A>G MANE Select | NP_542411.2:p.Gly1108= | |
| NM_080681.3:c.3066A>G | NP_542412.2:p.Gly1022= | |
| NM_080679.3:c.3003A>G | NP_542410.2:p.Gly1001= |