Linked Data
ClinVar Variation Id:
540324
dbSNP Id:
rs377278570
ExAC:
8:133687738 A / T
gnomAD v2:
8-133687738-A-T
gnomAD v3:
8-132675492-A-T
gnomAD v4:
8-132675492-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132675492A>T , CM000670.2:g.132675492A>T | GRCh38 |
| NC_000008.10:g.133687738A>T , CM000670.1:g.133687738A>T | GRCh37 |
| NC_000008.9:g.133756920A>T | NCBI36 |
| NG_033068.1:g.5126T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.2T>A MANE Select | ENSP00000484634.1:p.Met1Lys | |
| ENST00000250173.5:c.2T>A | ENSP00000250173.2:p.Met1Lys | |
| ENST00000518101.1:n.89T>A | ||
| ENST00000518642.5:c.2T>A | ENSP00000428610.1:p.Met1Lys | |
| ENST00000519595.5:c.2T>A | ENSP00000429791.1:p.Met1Lys | |
| ENST00000520446.5:n.101T>A | ||
| ENST00000521430.5:n.34T>A | ||
| ENST00000522584.5:c.2T>A | ENSP00000429811.1:p.Met1Lys | |
| ENST00000523503.1:n.68T>A | ||
| ENST00000620350.4:c.2T>A | ENSP00000484634.1:p.Met1Lys | |
| NM_012472.4:c.2T>A | NP_036604.2:p.Met1Lys | |
| NR_073525.1:n.126T>A | ||
| XM_006716538.2:c.28+9450T>A | XP_006716601.2:n.28+9450T>A | |
| XM_011516950.1:c.28+9450T>A | XP_011515252.1:n.28+9450T>A | |
| XM_011516951.1:c.28+9450T>A | XP_011515253.1:n.28+9450T>A | |
| XM_011516952.1:c.2T>A | XP_011515254.1:p.Met1Lys | |
| XR_428377.2:n.153+9450T>A | ||
| NM_001321961.1:c.2T>A | NP_001308890.1:p.Met1Lys | |
| NM_001321962.1:c.2T>A | NP_001308891.1:p.Met1Lys | |
| NM_001321966.1:c.-569T>A | NP_001308895.1:n.-569T>A | |
| NM_012472.5:c.2T>A | NP_036604.2:p.Met1Lys | |
| NR_073525.2:n.126T>A | ||
| NR_135905.1:n.126T>A | ||
| NR_135906.1:n.126T>A | ||
| NR_135907.1:n.126T>A | ||
| NR_135908.1:n.126T>A | ||
| NR_135909.1:n.34T>A | ||
| XM_006716538.3:c.28+9450T>A | XP_006716601.2:n.28+9450T>A | |
| XM_011516950.2:c.28+9450T>A | XP_011515252.1:n.28+9450T>A | |
| XM_017013297.1:c.-569T>A | XP_016868786.1:n.-569T>A | |
| XM_017013298.1:c.-463T>A | XP_016868787.1:n.-463T>A | |
| NM_012472.6:c.2T>A MANE Select | NP_036604.2:p.Met1Lys | |
| NM_001321961.2:c.2T>A | NP_001308890.1:p.Met1Lys | |
| NM_001321962.2:c.2T>A | NP_001308891.1:p.Met1Lys | |
| NM_001321963.2:c.-919T>A | NP_001308892.1:n.-919T>A | |
| NM_001321964.2:c.-1285T>A | NP_001308893.1:n.-1285T>A | |
| NM_001321965.2:c.-1598T>A | NP_001308894.1:n.-1598T>A | |
| NM_001321966.2:c.-569T>A | NP_001308895.1:n.-569T>A | |
| NR_073525.3:n.54T>A | ||
| NR_135905.2:n.54T>A | ||
| NR_135906.2:n.54T>A | ||
| NR_135907.2:n.54T>A | ||
| NR_135908.2:n.54T>A | ||
| NR_135909.2:n.54T>A | ||
| NR_135910.2:n.54T>A | ||
| NR_135911.2:n.54T>A | ||
| NR_135912.2:n.54T>A | ||
| NR_135913.2:n.54T>A |