Linked Data
dbSNP Id:
rs1229841072
gnomAD v2:
6-44278846-T-A
gnomAD v3:
6-44311109-T-A
gnomAD v4:
6-44311109-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44311109T>A , CM000668.2:g.44311109T>A | GRCh38 |
| NC_000006.11:g.44278846T>A , CM000668.1:g.44278846T>A | GRCh37 |
| NC_000006.10:g.44386824T>A | NCBI36 |
| NG_031952.1:g.7218A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.634A>T (AARS2) MANE Select | ENSP00000244571.4:p.Met212Leu | |
| ENST00000244571.4:c.634A>T (AARS2) | ENSP00000244571.4:p.Met212Leu | |
| ENST00000505802.1:c.855+3467T>A | ||
| NM_020745.3:c.634A>T (AARS2) | NP_065796.1:p.Met212Leu | |
| XM_005249245.2:c.634A>T (AARS2) | XP_005249302.1:p.Met212Leu | |
| XM_011514764.1:c.634A>T (AARS2) | XP_011513066.1:p.Met212Leu | |
| XR_241907.2:n.669A>T (AARS2) | ||
| XM_005249245.3:c.634A>T (AARS2) | XP_005249302.1:p.Met212Leu | |
| XM_011514764.2:c.634A>T (AARS2) | XP_011513066.1:p.Met212Leu | |
| XM_017011112.1:c.-385A>T (AARS2) | XP_016866601.1:n.-385A>T | |
| NM_020745.4:c.634A>T (AARS2) MANE Select | NP_065796.2:p.Met212Leu | |
| NM_001318876.2:c.946-130781T>A (POLR1C) | NP_001305805.1:n.946-130781T>A |