Linked Data
dbSNP Id:
rs17408150
ExAC:
5:96239258 T / A
gnomAD v2:
5-96239258-T-A
gnomAD v3:
5-96903554-T-A
gnomAD v4:
5-96903554-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96903554T>A , CM000667.2:g.96903554T>A | GRCh38 |
| NC_000005.9:g.96239258T>A , CM000667.1:g.96239258T>A | GRCh37 |
| NC_000005.8:g.96265014T>A | NCBI36 |
| NG_027839.2:g.37430A>T | |
| NG_051092.1:g.32616T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000510373.6:c.2006T>A (ERAP2) | ENSP00000421175.2:p.Leu669Gln | |
| ENST00000437043.8:c.2006T>A (ERAP2) MANE Select | ENSP00000400376.3:p.Leu669Gln | |
| ENST00000379904.8:c.1871T>A (ERAP2) | ENSP00000369235.4:p.Leu624Gln | |
| ENST00000437043.7:c.2006T>A (ERAP2) | ENSP00000400376.3:p.Leu669Gln | |
| ENST00000510373.5:c.2006T>A (ERAP2) | ENSP00000421175.1:p.Leu669Gln | |
| ENST00000513084.5:c.*463T>A (ERAP2) | ENSP00000421849.1:n.*463T>A | |
| ENST00000515387.1:n.737T>A (ERAP2) | ||
| NM_001130140.1:c.2006T>A (ERAP2) | NP_001123612.1:p.Leu669Gln | |
| NM_022350.3:c.2006T>A (ERAP2) | NP_071745.1:p.Leu669Gln | |
| XM_011543480.1:c.-705-29882A>T (ERAP1) | XP_011541782.1:n.-705-29882A>T | |
| XM_011543481.1:c.-702-29882A>T (ERAP1) | XP_011541783.1:n.-702-29882A>T | |
| XM_011543482.1:c.-709-29882A>T (ERAP1) | XP_011541784.1:n.-709-29882A>T | |
| XM_011543483.1:c.-872-29882A>T (ERAP1) | XP_011541785.1:n.-872-29882A>T | |
| XM_011543484.1:c.-701-29882A>T (ERAP1) | XP_011541786.1:n.-701-29882A>T | |
| XM_011543485.1:c.-521-29882A>T (ERAP1) | XP_011541787.1:n.-521-29882A>T | |
| XM_011543486.1:c.-705-29882A>T (ERAP1) | XP_011541788.1:n.-705-29882A>T | |
| XM_011543487.1:c.-705-29882A>T (ERAP1) | XP_011541789.1:n.-705-29882A>T | |
| XM_011543544.1:c.1937T>A (ERAP2) | XP_011541846.1:p.Leu646Gln | |
| NM_001130140.2:c.2006T>A (ERAP2) | NP_001123612.1:p.Leu669Gln | |
| NM_001329229.1:c.1871T>A (ERAP2) | NP_001316158.1:p.Leu624Gln | |
| NM_022350.4:c.2006T>A (ERAP2) | NP_071745.1:p.Leu669Gln | |
| NR_137637.1:n.2773T>A (ERAP2) | ||
| XM_011543480.2:c.-705-29882A>T (ERAP1) | XP_011541782.1:n.-705-29882A>T | |
| XM_011543481.2:c.-702-29882A>T (ERAP1) | XP_011541783.1:n.-702-29882A>T | |
| XM_011543484.2:c.-701-29882A>T (ERAP1) | XP_011541786.1:n.-701-29882A>T | |
| XM_011543485.2:c.-521-29882A>T (ERAP1) | XP_011541787.1:n.-521-29882A>T | |
| XM_011543486.3:c.-705-29882A>T (ERAP1) | XP_011541788.1:n.-705-29882A>T | |
| XM_011543544.2:c.1937T>A (ERAP2) | XP_011541846.1:p.Leu646Gln | |
| XM_017009581.1:c.-547-30176A>T (ERAP1) | XP_016865070.1:n.-547-30176A>T | |
| XM_024446113.1:c.-544-30176A>T (ERAP1) | XP_024301881.1:n.-544-30176A>T | |
| XR_001742179.2:n.2174T>A (ERAP2) | ||
| NM_022350.5:c.2006T>A (ERAP2) MANE Select | NP_071745.1:p.Leu669Gln |