Linked Data
ClinVar Variation Id:
2050833
ClinVar RCV Id:
RCV002904646
dbSNP Id:
rs113574057
ExAC:
19:11287397 C / T
gnomAD v2:
19-11287397-C-T
gnomAD v3:
19-11176721-C-T
gnomAD v4:
19-11176721-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11176721C>T , CM000681.2:g.11176721C>T | GRCh38 |
| NC_000019.9:g.11287397C>T , CM000681.1:g.11287397C>T | GRCh37 |
| NC_000019.8:g.11148397C>T | NCBI36 |
| NG_051186.1:g.25847G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586659.6:c.1617G>A MANE Select | ENSP00000465650.1:p.Pro539= | |
| ENST00000586659.5:c.1617G>A | ENSP00000465650.1:p.Pro539= | |
| ENST00000589359.5:c.1641G>A | ENSP00000468002.1:p.Pro547= | |
| ENST00000589894.1:c.1617G>A | ENSP00000467029.1:p.Pro539= | |
| NM_001136191.2:c.1617G>A | NP_001129663.1:p.Pro539= | |
| NM_015493.6:c.1641G>A | NP_056308.3:p.Pro547= | |
| NM_001329451.1:c.1617G>A | NP_001316380.1:p.Pro539= | |
| NM_001136191.3:c.1617G>A MANE Select | NP_001129663.1:p.Pro539= | |
| NM_001329451.2:c.1617G>A | NP_001316380.1:p.Pro539= | |
| NM_001379548.1:c.1641G>A | NP_001366477.1:p.Pro547= | |
| NM_001379549.1:c.1641G>A | NP_001366478.1:p.Pro547= | |
| NM_001379550.1:c.1641G>A | NP_001366479.1:p.Pro547= | |
| NM_001379551.1:c.1641G>A | NP_001366480.1:p.Pro547= | |
| NM_001379552.1:c.1641G>A | NP_001366481.1:p.Pro547= | |
| NM_001379553.1:c.1641G>A | NP_001366482.1:p.Pro547= | |
| NM_001379554.1:c.1641G>A | NP_001366483.1:p.Pro547= | |
| NM_001379555.1:c.1617G>A | NP_001366484.1:p.Pro539= | |
| NM_001379556.1:c.1617G>A | NP_001366485.1:p.Pro539= | |
| NM_001379557.1:c.1617G>A | NP_001366486.1:p.Pro539= | |
| NM_001379558.1:c.1617G>A | NP_001366487.1:p.Pro539= | |
| NM_001379559.1:c.1617G>A | NP_001366488.1:p.Pro539= | |
| NM_001379560.1:c.1617G>A | NP_001366489.1:p.Pro539= | |
| NM_001379561.1:c.1617G>A | NP_001366490.1:p.Pro539= | |
| NM_001379562.1:c.1617G>A | NP_001366491.1:p.Pro539= | |
| NM_001379563.1:c.1617G>A | NP_001366492.1:p.Pro539= | |
| NM_015493.7:c.1641G>A | NP_056308.3:p.Pro547= |