Linked Data
dbSNP Id:
rs770833107
ExAC:
16:5078966 C / T
gnomAD v2:
16-5078966-C-T
gnomAD v3:
16-5028965-C-T
gnomAD v4:
16-5028965-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5028965C>T , CM000678.2:g.5028965C>T | GRCh38 |
| NC_000016.9:g.5078966C>T , CM000678.1:g.5078966C>T | GRCh37 |
| NC_000016.8:g.5018967C>T | NCBI36 |
| NG_028152.1:g.9977G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312251.8:c.835G>A MANE Select | ENSP00000310998.3:p.Val279Met | |
| ENST00000649828.1:c.835G>A | ENSP00000498032.1:p.Val279Met | |
| ENST00000312251.7:c.835G>A | ENSP00000310998.3:p.Val279Met | |
| ENST00000381955.7:c.835G>A | ENSP00000371381.3:p.Val279Met | |
| ENST00000562037.1:c.596G>A | ENSP00000464994.1:n.596G>A | |
| ENST00000562346.2:c.505-780G>A | ||
| ENST00000562746.5:c.835G>A | ENSP00000455900.1:p.Val279Met | |
| ENST00000563578.5:c.653G>A | ||
| ENST00000564397.5:n.1194G>A | ||
| ENST00000565876.5:c.480+1420G>A | ||
| ENST00000567739.5:n.154G>A | ||
| ENST00000568202.5:n.698G>A | ||
| ENST00000569296.5:c.379G>A | ENSP00000465949.1:p.Val127Met | |
| NM_016256.3:c.835G>A | NP_057340.2:p.Val279Met | |
| XM_011522517.1:c.835G>A | XP_011520819.1:p.Val279Met | |
| XM_011522518.1:c.835G>A | XP_011520820.1:p.Val279Met | |
| XM_011522519.1:c.835G>A | XP_011520821.1:p.Val279Met | |
| XR_243285.1:n.862G>A | ||
| XM_011522517.3:c.835G>A | XP_011520819.1:p.Val279Met | |
| XR_001751908.2:n.861G>A | ||
| XR_001751909.2:n.861G>A | ||
| XR_001751910.2:n.861G>A | ||
| XR_001751911.2:n.861G>A | ||
| XR_001751912.2:n.861G>A | ||
| NM_016256.4:c.835G>A MANE Select | NP_057340.2:p.Val279Met |