Linked Data
dbSNP Id:
rs1722561
gnomAD v2:
19-51500243-A-G
gnomAD v3:
19-50996987-A-G
gnomAD v4:
19-50996987-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50996987A>G , CM000681.2:g.50996987A>G | GRCh38 |
| NC_000019.9:g.51500243A>G , CM000681.1:g.51500243A>G | GRCh37 |
| NC_000019.8:g.56192055A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695909.1:c.627+764T>C MANE Select | ENSP00000512260.1:n.627+764T>C | |
| ENST00000291726.11:c.264+764T>C | ENSP00000291726.8:n.264+764T>C | |
| ENST00000320838.9:c.71-773T>C | ENSP00000325072.5:n.71-773T>C | |
| ENST00000347619.8:c.204+764T>C | ENSP00000341555.3:n.204+764T>C | |
| ENST00000391806.6:c.762+764T>C | ENSP00000375682.1:n.762+764T>C | |
| ENST00000593490.1:c.71-773T>C | ENSP00000469278.1:n.71-773T>C | |
| ENST00000594669.1:c.426+764T>C | ||
| ENST00000594914.1:n.217+764T>C | ||
| ENST00000598195.5:n.417+764T>C | ||
| ENST00000599166.5:c.1191+764T>C | ENSP00000471395.1:n.1191+764T>C | |
| ENST00000600767.5:c.627+764T>C | ENSP00000472016.1:n.627+764T>C | |
| NM_001281431.1:c.264+764T>C | NP_001268360.1:n.264+764T>C | |
| NM_007196.3:c.627+764T>C | NP_009127.1:n.627+764T>C | |
| NM_144505.2:c.762+764T>C | NP_653088.1:n.762+764T>C | |
| NM_144506.2:c.204+764T>C | NP_653089.1:n.204+764T>C | |
| NM_144507.2:c.71-773T>C | NP_653090.1:n.71-773T>C | |
| NR_104008.1:n.543+764T>C | ||
| NM_007196.4:c.627+764T>C MANE Select | NP_009127.1:n.627+764T>C | |
| NM_144505.3:c.762+764T>C | NP_653088.1:n.762+764T>C | |
| NM_144506.3:c.204+764T>C | NP_653089.1:n.204+764T>C | |
| NR_104008.2:n.445+764T>C | ||
| NM_001281431.2:c.264+764T>C | NP_001268360.1:n.264+764T>C | |
| NM_144507.3:c.71-773T>C | NP_653090.1:n.71-773T>C |