Linked Data
dbSNP Id:
rs576262508
ExAC:
5:14716904 T / G
gnomAD v2:
5-14716904-T-G
gnomAD v3:
5-14716795-T-G
gnomAD v4:
5-14716795-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716795T>G , CM000667.2:g.14716795T>G | GRCh38 |
| NC_000005.9:g.14716904T>G , CM000667.1:g.14716904T>G | GRCh37 |
| NC_000005.8:g.14769904T>G | NCBI36 |
| NG_008273.1:g.159984A>C | |
| NG_008273.2:g.159991A>C | |
| NG_051625.1:g.61002T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1052A>C MANE Select | ENSP00000284268.6:p.Lys351Thr | |
| ENST00000284268.6:c.1052A>C | ENSP00000284268.6:p.Lys351Thr | |
| ENST00000502585.1:n.294A>C | ||
| NM_054027.4:c.1052A>C | NP_473368.1:p.Lys351Thr | |
| NM_054027.5:c.1052A>C | NP_473368.1:p.Lys351Thr | |
| XM_017009644.2:c.968A>C | XP_016865133.1:p.Lys323Thr | |
| NM_054027.6:c.1052A>C MANE Select | NP_473368.1:p.Lys351Thr |