Linked Data
dbSNP Id:
rs12051734
gnomAD v2:
17-38494150-C-T
gnomAD v3:
17-40337898-C-T
gnomAD v4:
17-40337898-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40337898C>T , CM000679.2:g.40337898C>T | GRCh38 |
| NC_000017.10:g.38494150C>T , CM000679.1:g.38494150C>T | GRCh37 |
| NC_000017.9:g.35747676C>T | NCBI36 |
| NG_027701.1:g.33728C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254066.10:c.178+6502C>T MANE Select | ENSP00000254066.5:n.178+6502C>T | |
| ENST00000254066.9:c.178+6502C>T | ENSP00000254066.5:n.178+6502C>T | |
| ENST00000394089.6:c.178+6502C>T | ENSP00000377649.2:n.178+6502C>T | |
| ENST00000425707.7:c.178+6502C>T | ENSP00000389993.3:n.178+6502C>T | |
| ENST00000577646.5:c.178+6502C>T | ENSP00000464287.1:n.178+6502C>T | |
| NM_000964.3:c.178+6502C>T | NP_000955.1:n.178+6502C>T | |
| NM_001145301.2:c.178+6502C>T | NP_001138773.1:n.178+6502C>T | |
| NM_001145302.2:c.178+6502C>T | NP_001138774.1:n.178+6502C>T | |
| XM_005257553.1:c.178+6502C>T | XP_005257610.1:n.178+6502C>T | |
| XM_005257554.1:c.178+6502C>T | XP_005257611.1:n.178+6502C>T | |
| XM_011525095.1:c.178+6502C>T | XP_011523397.1:n.178+6502C>T | |
| NM_000964.4:c.178+6502C>T MANE Select | NP_000955.1:n.178+6502C>T | |
| NM_001145301.3:c.178+6502C>T | NP_001138773.1:n.178+6502C>T | |
| NM_001145302.3:c.178+6502C>T | NP_001138774.1:n.178+6502C>T |