Linked Data
dbSNP Id:
rs539289176
gnomAD v2:
3-52833451-G-A
gnomAD v3:
3-52799435-G-A
gnomAD v4:
3-52799435-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52799435G>A , CM000665.2:g.52799435G>A | GRCh38 |
| NC_000003.11:g.52833451G>A , CM000665.1:g.52833451G>A | GRCh37 |
| NC_000003.10:g.52808491G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703834.1:c.853G>A | ENSP00000515492.1:p.Val285Met | |
| ENST00000449956.3:c.853G>A MANE Select | ENSP00000415769.2:p.Val285Met | |
| ENST00000416872.6:c.853G>A | ENSP00000413922.2:p.Val285Met | |
| ENST00000449956.2:c.853G>A | ENSP00000415769.2:p.Val285Met | |
| ENST00000463893.1:n.352G>A | ||
| ENST00000465243.6:n.377G>A | ||
| ENST00000621946.4:c.853G>A | ENSP00000479928.1:p.Val285Met | |
| NM_002217.3:c.853G>A | NP_002208.3:p.Val285Met | |
| XM_005265105.3:c.853G>A | XP_005265162.1:p.Val285Met | |
| XM_006713129.2:c.853G>A | XP_006713192.1:p.Val285Met | |
| XM_006713130.2:c.853G>A | XP_006713193.1:p.Val285Met | |
| XM_005265105.5:c.853G>A | XP_005265162.1:p.Val285Met | |
| XM_024453512.1:c.-30G>A | XP_024309280.1:n.-30G>A | |
| NM_001392019.1:c.853G>A | NP_001378948.1:p.Val285Met | |
| NM_001392020.1:c.853G>A | NP_001378949.1:p.Val285Met | |
| NM_001392021.1:c.853G>A | NP_001378950.1:p.Val285Met | |
| NM_001392022.1:c.853G>A | NP_001378951.1:p.Val285Met | |
| NM_001392023.1:c.832G>A | NP_001378952.1:p.Val278Met | |
| NM_001392024.1:c.853G>A | NP_001378953.1:p.Val285Met | |
| NM_001392025.1:c.853G>A | NP_001378954.1:p.Val285Met | |
| NM_001392026.1:c.853G>A | NP_001378955.1:p.Val285Met | |
| NM_001392027.1:c.853G>A | NP_001378956.1:p.Val285Met | |
| NM_002217.4:c.853G>A MANE Select | NP_002208.3:p.Val285Met |