Linked Data
dbSNP Id:
rs758975398
ExAC:
6:49415471 T / G
gnomAD v2:
6-49415471-T-G
gnomAD v4:
6-49447758-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49447758T>G , CM000668.2:g.49447758T>G | GRCh38 |
| NC_000006.11:g.49415471T>G , CM000668.1:g.49415471T>G | GRCh37 |
| NC_000006.10:g.49523430T>G | NCBI36 |
| NG_007100.1:g.20382A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.1472A>C MANE Select | ENSP00000274813.3:p.Lys491Thr | |
| ENST00000274813.3:c.1472A>C | ENSP00000274813.3:p.Lys491Thr | |
| NM_000255.3:c.1472A>C | NP_000246.2:p.Lys491Thr | |
| XM_005249143.2:c.1472A>C | XP_005249200.1:p.Lys491Thr | |
| XM_005249143.3:c.1472A>C | XP_005249200.1:p.Lys491Thr | |
| NM_000255.4:c.1472A>C MANE Select | NP_000246.2:p.Lys491Thr |