Linked Data
dbSNP Id:
rs762802915
ExAC:
14:77745147 G / C
gnomAD v2:
14-77745147-G-C
gnomAD v4:
14-77278804-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278804G>C , CM000676.2:g.77278804G>C | GRCh38 |
| NC_000014.8:g.77745147G>C , CM000676.1:g.77745147G>C | GRCh37 |
| NC_000014.7:g.76814900G>C | NCBI36 |
| NG_008897.1:g.47079C>G , LRG_844:g.47079C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.882C>G | ||
| ENST00000556394.2:c.1498C>G | ENSP00000451967.2:p.Pro500Ala | |
| ENST00000682128.1:c.258C>G | ENSP00000506976.1:n.258C>G | |
| ENST00000682247.1:c.1946C>G | ENSP00000507213.1:p.Pro649Arg | |
| ENST00000682395.1:n.2421C>G | ||
| ENST00000682459.1:n.1660C>G | ||
| ENST00000682467.1:c.1892-296C>G | ENSP00000508062.1:n.1892-296C>G | |
| ENST00000682615.1:n.311C>G | ||
| ENST00000682795.1:c.2104C>G | ENSP00000507574.1:p.Pro702Ala | |
| ENST00000682895.1:n.1673C>G | ||
| ENST00000682955.1:n.1531C>G | ||
| ENST00000683095.1:c.363C>G | ENSP00000508040.1:n.363C>G | |
| ENST00000683188.1:c.2218C>G | ||
| ENST00000683380.1:n.1621C>G | ||
| ENST00000683828.1:c.1666C>G | ||
| ENST00000683907.1:c.222C>G | ENSP00000507754.1:p.Ser74= | |
| ENST00000684172.1:c.333C>G | ENSP00000508391.1:n.333C>G | |
| ENST00000684259.1:n.3724C>G | ||
| ENST00000684538.1:n.1336C>G | ||
| ENST00000684549.1:n.1508C>G | ||
| ENST00000261534.9:c.1957C>G MANE Select | ENSP00000261534.4:p.Pro653Ala | |
| ENST00000261534.8:c.1957C>G | ENSP00000261534.4:p.Pro653Ala | |
| ENST00000452340.7:n.2933C>G | ||
| ENST00000554767.5:n.2743C>G | ||
| ENST00000555710.1:c.318C>G | ENSP00000451730.1:n.318C>G | |
| ENST00000556171.1:c.549C>G | ||
| ENST00000556394.1:c.88-296C>G | ||
| ENST00000556446.1:n.258C>G | ||
| ENST00000602717.5:c.172C>G | ENSP00000487704.1:p.Pro58Ala | |
| NM_013382.5:c.1957C>G , LRG_844t1:c.1957C>G | NP_037514.2:p.Pro653Ala | |
| XM_011536675.1:c.2146C>G | XP_011534977.1:p.Pro716Ala | |
| XM_011536676.1:c.1813C>G | XP_011534978.1:p.Pro605Ala | |
| XM_011536677.1:c.1687C>G | XP_011534979.1:p.Pro563Ala | |
| XM_011536679.1:c.1240C>G | XP_011534981.1:p.Pro414Ala | |
| XR_943416.1:n.2210C>G | ||
| XM_011536675.2:c.2146C>G | XP_011534977.1:p.Pro716Ala | |
| XM_011536676.2:c.1813C>G | XP_011534978.1:p.Pro605Ala | |
| XM_011536677.3:c.1687C>G | XP_011534979.1:p.Pro563Ala | |
| XR_001750279.1:n.2243C>G | ||
| XR_001750282.1:n.2896C>G | ||
| XR_943416.3:n.2208C>G | ||
| NM_013382.6:c.1957C>G | NP_037514.2:p.Pro653Ala | |
| NM_013382.7:c.1957C>G MANE Select | NP_037514.2:p.Pro653Ala |