Linked Data
ClinVar Variation Id:
195801
dbSNP Id:
rs200482255
ExAC:
8:145003893 G / A
gnomAD v2:
8-145003893-G-A
gnomAD v3:
8-143929725-G-A
gnomAD v4:
8-143929725-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143929725G>A , CM000670.2:g.143929725G>A | GRCh38 |
| NC_000008.10:g.145003893G>A , CM000670.1:g.145003893G>A | GRCh37 |
| NC_000008.9:g.145075881G>A | NCBI36 |
| NG_012492.1:g.52021C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000528025.6:c.2976C>T | ENSP00000437303.2:p.Pro992= | |
| ENST00000685198.1:c.2895C>T | ENSP00000510528.1:p.Pro965= | |
| ENST00000687971.1:c.2562C>T | ENSP00000510788.1:p.Pro854= | |
| ENST00000693060.1:c.2775C>T | ENSP00000510329.1:p.Pro925= | |
| ENST00000345136.8:c.2844C>T MANE Select | ENSP00000344848.3:p.Pro948= | |
| ENST00000527303.2:c.2925C>T | ENSP00000433982.2:p.Pro975= | |
| ENST00000322810.8:c.3255C>T | ENSP00000323856.4:p.Pro1085= | |
| ENST00000345136.7:c.2844C>T | ENSP00000344848.3:p.Pro948= | |
| ENST00000354589.7:c.2844C>T | ENSP00000346602.3:p.Pro948= | |
| ENST00000354958.6:c.2778C>T | ENSP00000347044.2:p.Pro926= | |
| ENST00000356346.7:c.2802C>T MANE Plus Clinical | ENSP00000348702.3:p.Pro934= | |
| ENST00000357649.6:c.2856C>T | ENSP00000350277.2:p.Pro952= | |
| ENST00000398774.6:c.2748C>T | ENSP00000381756.2:p.Pro916= | |
| ENST00000436759.6:c.2925C>T | ENSP00000388180.2:p.Pro975= | |
| ENST00000527096.5:c.2913C>T | ENSP00000434583.1:p.Pro971= | |
| NM_000445.4:c.2925C>T | NP_000436.2:p.Pro975= | |
| NM_201378.3:c.2802C>T | NP_958780.1:p.Pro934= | |
| NM_201379.2:c.2778C>T | NP_958781.1:p.Pro926= | |
| NM_201380.3:c.3255C>T | NP_958782.1:p.Pro1085= | |
| NM_201381.2:c.2748C>T | NP_958783.1:p.Pro916= | |
| NM_201382.3:c.2844C>T | NP_958784.1:p.Pro948= | |
| NM_201383.2:c.2856C>T | NP_958785.1:p.Pro952= | |
| NM_201384.2:c.2844C>T | NP_958786.1:p.Pro948= | |
| XM_005250976.2:c.3270C>T | XP_005251033.1:p.Pro1090= | |
| XM_005250978.2:c.2871C>T | XP_005251035.1:p.Pro957= | |
| XM_005250979.3:c.2859C>T | XP_005251036.1:p.Pro953= | |
| XM_005250980.3:c.2859C>T | XP_005251037.1:p.Pro953= | |
| XM_005250981.2:c.2817C>T | XP_005251038.1:p.Pro939= | |
| XM_005250982.2:c.2793C>T | XP_005251039.1:p.Pro931= | |
| XM_005250983.2:c.2775C>T | XP_005251040.1:p.Pro925= | |
| XM_005250984.3:c.2763C>T | XP_005251041.1:p.Pro921= | |
| XM_006716588.2:c.2940C>T | XP_006716651.1:p.Pro980= | |
| XM_006716589.2:c.2790C>T | XP_006716652.1:p.Pro930= | |
| XM_006716590.2:c.2790C>T | XP_006716653.1:p.Pro930= | |
| XM_011517130.1:c.2859C>T | XP_011515432.1:p.Pro953= | |
| XM_011517131.1:c.2775C>T | XP_011515433.1:p.Pro925= | |
| XM_011517132.1:c.2871C>T | XP_011515434.1:p.Pro957= | |
| XM_005250976.4:c.3270C>T | XP_005251033.1:p.Pro1090= | |
| XM_005250978.3:c.2871C>T | XP_005251035.1:p.Pro957= | |
| XM_005250979.4:c.2859C>T | XP_005251036.1:p.Pro953= | |
| XM_005250980.4:c.2859C>T | XP_005251037.1:p.Pro953= | |
| XM_005250981.3:c.2817C>T | XP_005251038.1:p.Pro939= | |
| XM_005250982.4:c.2793C>T | XP_005251039.1:p.Pro931= | |
| XM_005250984.5:c.2763C>T | XP_005251041.1:p.Pro921= | |
| XM_006716588.3:c.2940C>T | XP_006716651.1:p.Pro980= | |
| XM_006716590.3:c.2790C>T | XP_006716653.1:p.Pro930= | |
| XM_011517130.2:c.2859C>T | XP_011515432.1:p.Pro953= | |
| XM_011517131.2:c.2775C>T | XP_011515433.1:p.Pro925= | |
| XM_011517132.2:c.2871C>T | XP_011515434.1:p.Pro957= | |
| NM_000445.5:c.2925C>T | NP_000436.2:p.Pro975= | |
| NM_201378.4:c.2802C>T MANE Plus Clinical | NP_958780.1:p.Pro934= | |
| NM_201379.3:c.2778C>T | NP_958781.1:p.Pro926= | |
| NM_201380.4:c.3255C>T | NP_958782.1:p.Pro1085= | |
| NM_201381.3:c.2748C>T | NP_958783.1:p.Pro916= | |
| NM_201382.4:c.2844C>T | NP_958784.1:p.Pro948= | |
| NM_201383.3:c.2856C>T | NP_958785.1:p.Pro952= | |
| NM_201384.3:c.2844C>T MANE Select | NP_958786.1:p.Pro948= |