Linked Data
dbSNP Id:
rs141445632
ExAC:
2:219449425 C / T
gnomAD v2:
2-219449425-C-T
gnomAD v3:
2-218584702-C-T
gnomAD v4:
2-218584702-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218584702C>T , CM000664.2:g.218584702C>T | GRCh38 |
| NC_000002.11:g.219449425C>T , CM000664.1:g.219449425C>T | GRCh37 |
| NC_000002.10:g.219157669C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273064.11:c.411C>T MANE Select | ENSP00000273064.6:p.Leu137= | |
| ENST00000273064.10:c.411C>T | ENSP00000273064.6:p.Leu137= | |
| ENST00000295701.9:c.411C>T | ENSP00000295701.5:p.Leu137= | |
| ENST00000542068.5:c.411C>T | ENSP00000443687.1:p.Leu137= | |
| ENST00000627282.2:c.411C>T | ENSP00000486540.1:p.Leu137= | |
| NM_001271634.1:c.411C>T | NP_001258563.1:p.Leu137= | |
| NM_001271635.1:c.411C>T | NP_001258564.1:p.Leu137= | |
| NM_005444.2:c.411C>T | NP_005435.1:p.Leu137= | |
| NR_073390.1:n.695+1616C>T | ||
| XM_011512138.1:c.252C>T | XP_011510440.1:p.Leu84= | |
| XM_011512138.3:c.252C>T | XP_011510440.1:p.Leu84= | |
| XM_017005248.1:c.249C>T | XP_016860737.1:p.Leu83= | |
| XM_017005249.2:c.252C>T | XP_016860738.1:p.Leu84= | |
| NM_001271634.2:c.411C>T | NP_001258563.1:p.Leu137= | |
| NM_005444.3:c.411C>T MANE Select | NP_005435.1:p.Leu137= | |
| NR_073390.2:n.436+1616C>T | ||
| NM_001271635.2:c.411C>T | NP_001258564.1:p.Leu137= |