Linked Data
ClinVar Variation Id:
1542640
ClinVar RCV Id:
RCV002167404
dbSNP Id:
rs763806246
ExAC:
6:33138930 G / C
gnomAD v2:
6-33138930-G-C
gnomAD v3:
6-33171153-G-C
gnomAD v4:
6-33171153-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33171153G>C , CM000668.2:g.33171153G>C | GRCh38 |
| NC_000006.11:g.33138930G>C , CM000668.1:g.33138930G>C | GRCh37 |
| NC_000006.10:g.33246908G>C | NCBI36 |
| NG_011589.1:g.26316C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3327C>G MANE Select | ENSP00000339915.2:p.Pro1109= | |
| ENST00000341947.6:c.3327C>G | ENSP00000339915.2:p.Pro1109= | |
| ENST00000361917.5:c.3006C>G | ENSP00000355123.1:p.Pro1002= | |
| ENST00000374708.8:c.3069C>G | ENSP00000363840.4:p.Pro1023= | |
| ENST00000477772.1:n.273-5337C>G | ||
| NM_080679.2:c.3006C>G | NP_542410.2:p.Pro1002= | |
| NM_080680.2:c.3327C>G | NP_542411.2:p.Pro1109= | |
| NM_080681.2:c.3069C>G | NP_542412.2:p.Pro1023= | |
| XM_011514298.1:c.2481C>G | XP_011512600.1:p.Pro827= | |
| XM_011514299.1:c.2613C>G | XP_011512601.1:p.Pro871= | |
| XM_011514300.1:c.2433C>G | XP_011512602.1:p.Pro811= | |
| XM_011514301.1:c.2370C>G | XP_011512603.1:p.Pro790= | |
| XM_011514302.1:c.2214C>G | XP_011512604.1:p.Pro738= | |
| XM_011514299.2:c.2613C>G | XP_011512601.1:p.Pro871= | |
| XM_011514300.2:c.2433C>G | XP_011512602.1:p.Pro811= | |
| XM_011514302.2:c.2214C>G | XP_011512604.1:p.Pro738= | |
| XM_017010250.1:c.3327C>G | XP_016865739.1:p.Pro1109= | |
| XM_017010251.2:c.2145C>G | XP_016865740.1:p.Pro715= | |
| NM_080680.3:c.3327C>G MANE Select | NP_542411.2:p.Pro1109= | |
| NM_080681.3:c.3069C>G | NP_542412.2:p.Pro1023= | |
| NM_080679.3:c.3006C>G | NP_542410.2:p.Pro1002= |