Linked Data
dbSNP Id:
rs766016201
ExAC:
5:127668554 C / T
gnomAD v2:
5-127668554-C-T
gnomAD v3:
5-128332862-C-T
gnomAD v4:
5-128332862-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128332862C>T , CM000667.2:g.128332862C>T | GRCh38 |
| NC_000005.9:g.127668554C>T , CM000667.1:g.127668554C>T | GRCh37 |
| NC_000005.8:g.127696453C>T | NCBI36 |
| NG_008750.1:g.210182G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1006+50G>A | ||
| ENST00000703785.1:n.1087+50G>A | ||
| ENST00000262464.9:c.4222+50G>A MANE Select | ENSP00000262464.4:n.4222+50G>A | |
| ENST00000262464.8:c.4222+50G>A | ENSP00000262464.4:n.4222+50G>A | |
| ENST00000507835.5:c.772+50G>A | ENSP00000426839.1:n.772+50G>A | |
| ENST00000508053.5:c.4222+50G>A | ENSP00000424571.1:n.4222+50G>A | |
| ENST00000508989.5:c.4123+50G>A | ENSP00000425596.1:n.4123+50G>A | |
| ENST00000619499.4:c.4219+50G>A | ENSP00000482132.1:n.4219+50G>A | |
| NM_001999.3:c.4222+50G>A | NP_001990.2:n.4222+50G>A | |
| XM_017009228.2:c.4069+50G>A | XP_016864717.1:n.4069+50G>A | |
| NM_001999.4:c.4222+50G>A MANE Select | NP_001990.2:n.4222+50G>A |