Linked Data
ClinVar Variation Id:
162981
dbSNP Id:
rs142890313
ExAC:
6:33135285 G / T
gnomAD v2:
6-33135285-G-T
gnomAD v3:
6-33167508-G-T
gnomAD v4:
6-33167508-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33167508G>T , CM000668.2:g.33167508G>T | GRCh38 |
| NC_000006.11:g.33135285G>T , CM000668.1:g.33135285G>T | GRCh37 |
| NC_000006.10:g.33243263G>T | NCBI36 |
| NG_011589.1:g.29961C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.7C>A | ||
| ENST00000341947.7:c.4040C>A MANE Select | ENSP00000339915.2:p.Pro1347Gln | |
| ENST00000341947.6:c.4040C>A | ENSP00000339915.2:p.Pro1347Gln | |
| ENST00000361917.5:c.3719C>A | ENSP00000355123.1:p.Pro1240Gln | |
| ENST00000374708.8:c.3782C>A | ENSP00000363840.4:p.Pro1261Gln | |
| ENST00000477772.1:n.273-1692C>A | ||
| NM_080679.2:c.3719C>A | NP_542410.2:p.Pro1240Gln | |
| NM_080680.2:c.4040C>A | NP_542411.2:p.Pro1347Gln | |
| NM_080681.2:c.3782C>A | NP_542412.2:p.Pro1261Gln | |
| XM_011514298.1:c.3194C>A | XP_011512600.1:p.Pro1065Gln | |
| XM_011514299.1:c.3326C>A | XP_011512601.1:p.Pro1109Gln | |
| XM_011514300.1:c.3146C>A | XP_011512602.1:p.Pro1049Gln | |
| XM_011514301.1:c.3083C>A | XP_011512603.1:p.Pro1028Gln | |
| XM_011514302.1:c.2927C>A | XP_011512604.1:p.Pro976Gln | |
| XM_011514299.2:c.3326C>A | XP_011512601.1:p.Pro1109Gln | |
| XM_011514300.2:c.3146C>A | XP_011512602.1:p.Pro1049Gln | |
| XM_011514302.2:c.2927C>A | XP_011512604.1:p.Pro976Gln | |
| XM_017010250.1:c.4040C>A | XP_016865739.1:p.Pro1347Gln | |
| XM_017010251.2:c.2858C>A | XP_016865740.1:p.Pro953Gln | |
| NM_080680.3:c.4040C>A MANE Select | NP_542411.2:p.Pro1347Gln | |
| NM_080681.3:c.3782C>A | NP_542412.2:p.Pro1261Gln | |
| NM_080679.3:c.3719C>A | NP_542410.2:p.Pro1240Gln |