Linked Data
ClinVar Variation Id:
473199
dbSNP Id:
rs527404024
ExAC:
8:145583079 A / C
gnomAD v2:
8-145583079-A-C
gnomAD v3:
8-144359419-A-C
gnomAD v4:
8-144359419-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144359419A>C , CM000670.2:g.144359419A>C | GRCh38 |
| NC_000008.10:g.145583079A>C , CM000670.1:g.145583079A>C | GRCh37 |
| NC_000008.9:g.145553887A>C | NCBI36 |
| NG_032872.1:g.5863A>C | |
| NG_032872.2:g.5863A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329994.7:c.126A>C | ENSP00000333638.2:p.Pro42= | |
| ENST00000526338.7:c.126A>C | ENSP00000433583.3:p.Pro42= | |
| ENST00000526752.3:c.126A>C | ENSP00000433796.1:p.Pro42= | |
| ENST00000526779.3:c.126A>C | ENSP00000436917.1:p.Pro42= | |
| ENST00000526891.2:c.-135+99A>C | ENSP00000502670.1:n.-135+99A>C | |
| ENST00000527078.6:c.126A>C | ENSP00000434728.1:p.Pro42= | |
| ENST00000532815.2:c.126A>C | ENSP00000501933.1:p.Pro42= | |
| ENST00000533662.2:c.126A>C | ENSP00000502274.1:p.Pro42= | |
| ENST00000534725.6:c.126A>C | ENSP00000431965.2:p.Pro42= | |
| ENST00000643944.2:c.126A>C MANE Select | ENSP00000496184.2:p.Pro42= | |
| ENST00000674779.1:c.126A>C | ENSP00000501929.1:p.Pro42= | |
| ENST00000674821.1:c.126A>C | ENSP00000502219.1:p.Pro42= | |
| ENST00000674870.1:c.126A>C | ENSP00000502406.1:p.Pro42= | |
| ENST00000674929.1:c.126A>C | ENSP00000501554.1:p.Pro42= | |
| ENST00000675121.1:c.126A>C | ENSP00000501993.1:p.Pro42= | |
| ENST00000675280.1:c.126A>C | ENSP00000502796.1:p.Pro42= | |
| ENST00000675292.1:c.126A>C | ENSP00000502652.1:p.Pro42= | |
| ENST00000675597.1:c.126A>C | ENSP00000501973.1:p.Pro42= | |
| ENST00000675787.1:c.126A>C | ENSP00000502189.1:p.Pro42= | |
| ENST00000675888.1:c.126A>C | ENSP00000502294.1:p.Pro42= | |
| ENST00000676094.1:c.126A>C | ENSP00000502066.1:p.Pro42= | |
| ENST00000676358.1:c.126A>C | ENSP00000501821.1:p.Pro42= | |
| ENST00000329994.6:c.126A>C | ENSP00000333638.2:p.Pro42= | |
| ENST00000402965.5:c.126A>C | ENSP00000385961.1:p.Pro42= | |
| ENST00000524541.5:c.126A>C | ENSP00000434239.1:p.Pro42= | |
| ENST00000526338.5:c.126A>C | ENSP00000433583.1:p.Pro42= | |
| ENST00000526752.1:c.126A>C | ENSP00000433796.1:p.Pro42= | |
| ENST00000526779.1:c.126A>C | ENSP00000436917.1:p.Pro42= | |
| ENST00000526891.1:n.213+99A>C | ||
| ENST00000527078.5:c.126A>C | ENSP00000434728.1:p.Pro42= | |
| ENST00000530047.5:c.126A>C | ENSP00000435820.1:p.Pro42= | |
| ENST00000532887.5:c.126A>C | ENSP00000436768.1:p.Pro42= | |
| ENST00000533662.1:n.825A>C | ||
| ENST00000534725.5:c.126A>C | ENSP00000431965.1:p.Pro42= | |
| NM_001253815.1:c.126A>C | NP_001240744.1:p.Pro42= | |
| NM_001253816.1:c.126A>C | NP_001240745.1:p.Pro42= | |
| NM_024531.4:c.126A>C | NP_078807.1:p.Pro42= | |
| NR_045600.1:n.622+99A>C | ||
| XM_006716658.1:c.126A>C | XP_006716721.1:p.Pro42= | |
| XM_006716659.1:c.126A>C | XP_006716722.1:p.Pro42= | |
| XM_006716660.1:c.126A>C | XP_006716723.1:p.Pro42= | |
| NM_001363118.1:c.126A>C | NP_001350047.1:p.Pro42= | |
| NM_001363120.1:c.126A>C | NP_001350049.1:p.Pro42= | |
| NM_001363121.1:c.126A>C | NP_001350050.1:p.Pro42= | |
| NM_001363122.1:c.126A>C | NP_001350051.1:p.Pro42= | |
| XM_017013821.1:c.126A>C | XP_016869310.1:p.Pro42= | |
| XM_017013822.1:c.126A>C | XP_016869311.1:p.Pro42= | |
| NM_001253815.2:c.126A>C | NP_001240744.1:p.Pro42= | |
| NM_001253816.2:c.126A>C | NP_001240745.1:p.Pro42= | |
| NM_001363118.2:c.126A>C MANE Select | NP_001350047.1:p.Pro42= | |
| NM_001363120.2:c.126A>C | NP_001350049.1:p.Pro42= | |
| NM_001363121.2:c.126A>C | NP_001350050.1:p.Pro42= | |
| NM_001363122.2:c.126A>C | NP_001350051.1:p.Pro42= | |
| NM_024531.5:c.126A>C | NP_078807.1:p.Pro42= | |
| NR_045600.2:n.590+99A>C |