Linked Data
dbSNP Id:
rs1195159633
gnomAD v2:
17-35468087-C-T
gnomAD v3:
17-37111152-C-T
gnomAD v4:
17-37111152-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.37111152C>T , CM000679.2:g.37111152C>T | GRCh38 |
| NC_000017.10:g.35468087C>T , CM000679.1:g.35468087C>T | GRCh37 |
| NC_000017.9:g.32542200C>T | NCBI36 |
| NG_023295.2:g.300660G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616317.5:c.6565+379G>A MANE Select | ENSP00000483300.1:n.6565+379G>A | |
| ENST00000612895.4:c.6280+379G>A | ENSP00000482269.1:n.6280+379G>A | |
| ENST00000613776.1:n.691+379G>A | ||
| ENST00000614428.4:c.6454+379G>A | ENSP00000478547.1:n.6454+379G>A | |
| ENST00000614482.4:c.1150+379G>A | ||
| ENST00000616317.4:c.6565+379G>A | ENSP00000483300.1:n.6565+379G>A | |
| ENST00000617649.4:c.6220+379G>A | ENSP00000482368.1:n.6220+379G>A | |
| ENST00000619546.4:c.2410+379G>A | ENSP00000483969.1:n.2410+379G>A | |
| NM_198834.2:c.6565+379G>A | NP_942131.1:n.6565+379G>A | |
| NM_198836.2:c.6454+379G>A | NP_942133.1:n.6454+379G>A | |
| NM_198837.1:c.6280+379G>A | NP_942134.1:n.6280+379G>A | |
| NM_198838.1:c.6220+379G>A | NP_942135.1:n.6220+379G>A | |
| NM_198839.2:c.6454+379G>A | NP_942136.1:n.6454+379G>A | |
| XM_005257267.3:c.6220+379G>A | XP_005257324.1:n.6220+379G>A | |
| XM_006721853.1:c.6541+379G>A | XP_006721916.1:n.6541+379G>A | |
| XM_011524701.1:c.6475+379G>A | XP_011523003.1:n.6475+379G>A | |
| XM_011524702.1:c.6454+379G>A | XP_011523004.1:n.6454+379G>A | |
| XM_011524703.1:c.6454+379G>A | XP_011523005.1:n.6454+379G>A | |
| XM_011524704.1:c.6220+379G>A | XP_011523006.1:n.6220+379G>A | |
| XM_005257267.5:c.6220+379G>A | XP_005257324.1:n.6220+379G>A | |
| XM_011524704.2:c.6220+379G>A | XP_011523006.1:n.6220+379G>A | |
| XM_017024553.1:c.6589+379G>A | XP_016880042.1:n.6589+379G>A | |
| XM_017024554.1:c.6565+379G>A | XP_016880043.1:n.6565+379G>A | |
| XM_017024555.1:c.6454+379G>A | XP_016880044.1:n.6454+379G>A | |
| NM_198834.3:c.6565+379G>A MANE Select | NP_942131.1:n.6565+379G>A | |
| NM_198836.3:c.6454+379G>A | NP_942133.1:n.6454+379G>A | |
| NM_198837.2:c.6280+379G>A | NP_942134.1:n.6280+379G>A | |
| NM_198838.2:c.6220+379G>A | NP_942135.1:n.6220+379G>A | |
| NM_198839.3:c.6454+379G>A | NP_942136.1:n.6454+379G>A |